List of genetic disorders

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The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.

More common disorders

DisorderMutationChromosome
22q11.2 deletion syndromeD22q
Angelman syndromeDCP15
Canavan disease17p
Charcot–Marie–Tooth disease
Color blindnessPX
Cri du chatD5
Cystic fibrosisP7q
Down syndromeC21
Duchenne muscular dystrophyDXp
HaemochromatosisP6
HaemophiliaPX
Klinefelter syndromeCX
Neurofibromatosis17q/22q/?
PhenylketonuriaP12q
Polycystic kidney diseaseP16 (PKD1) or 4 (PKD2)
Prader–Willi syndromeDC15
Sickle-cell diseaseP11p
Tay–Sachs diseaseP15
Turner syndromeCX

Full list[edit]

Sortable table
Disorder nameMutation typeChromosome
1p36 deletion syndromeD1p36
18p deletion syndromeD18p
21-hydroxylase deficiency6p21.3
45,X
see Turner syndrome
CX
47,XX,+21
see Down syndrome
C21
47,XXX
see triple X syndrome
CX
47,XXY
see Klinefelter syndrome
CX
47,XY,+21
see Down syndrome
C21
47,XYY syndromeCY
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency
5p deletion syndrome
see Cri du chat
D5p
5p- syndrome
see Cri du chat
D5p
A-T
see ataxia telangiectasia
AAT
see alpha 1-antitrypsin deficiency
Absence of vas deferens
see congenital absence of the vas deferens
Absent vasa
see congenital absence of the vas deferens
aceruloplasminemia
ACG2
see achondrogenesis type II
ACH
see achondroplasia
Achondrogenesis type II
achondroplasiasubstitution4p16.3
Acid beta-glucosidase deficiency
see Gaucher disease type 1
Acrocephalosyndactyly (Apert)
see Apert syndrome
acrocephalosyndactyly, type V
see Pfeiffer syndrome
Acrocephaly
see Apert syndrome
Acute cerebral Gaucher's disease
see Gaucher disease type 2
acute intermittent porphyria
ACY2 deficiency
see Canavan disease
AD
see Alzheimer's disease
Adelaide-type craniosynostosis
see Muenke syndrome
Adenomatous Polyposis Coli
see familial adenomatous polyposis
Adenomatous Polyposis of the Colon
see familial adenomatous polyposis
ADP
see ALA dehydratase deficiency
adenylosuccinate lyase deficiency
Adrenal gland disorders
see 21-hydroxylase deficiency
Adrenogenital syndrome
see 21-hydroxylase deficiency
Adrenoleukodystrophy
AIP
see acute intermittent porphyria
AIS
see androgen insensitivity syndrome
AKU
see alkaptonuria
ALA dehydratase porphyria
see ALA dehydratase deficiency
ALA-D porphyria
see ALA dehydratase deficiency
ALA dehydratase deficiency
Albinism
Alcaptonuria
see alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis
see alkaptonuria
alpha 1-antitrypsin deficiency
alpha-1 proteinase inhibitor
see alpha 1-antitrypsin deficiency
14q32.1
alpha-1 related emphysema
see alpha 1-antitrypsin deficiency
14q32.1
Alpha-galactosidase A deficiency
see Fabry disease
PXq22.1
ALS
see amyotrophic lateral sclerosis
Alström syndrome
ALX
see Alexander disease
Alzheimer's disease
Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency
Aminoacylase 2 deficiency
see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry disease
see Fabry disease
PXq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia
X
Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia
X
Anemia, splenic, familial
see Gaucher disease
Angelman syndrome
Angiokeratoma Corporis Diffusum
see Fabry disease
PXq22.1
Angiokeratoma diffuse
see Fabry disease
Angiomatosis retinae
see von Hippel–Lindau disease
ANH1
see X-linked sideroblastic anemia
X
APC resistance, Leiden type
see factor V Leiden thrombophilia
Apert syndrome
AR deficiency
see androgen insensitivity syndrome
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
Arachnodactyly
see Marfan syndrome
ARNSHL
see Nonsyndromic deafness#autosomal recessive
Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1
Arthrochalasis multiplex congenita
see Ehlers–Danlos syndrome#arthrochalasia type
AS
see Angelman syndrome
Asp deficiency
see Canavan disease
Aspa deficiency
see Canavan disease
Aspartoacylase deficiency
see Canavan disease
ataxia telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
see Rett syndrome
autosomal dominant juvenile ALS
see amyotrophic lateral sclerosis, type 4
Autosomal dominant opitz G/BBB syndrome
see 22q11.2 deletion syndrome
D22q
autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2
Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see Pendred syndrome
AxD
see Alexander disease
Ayerza syndrome
see primary pulmonary hypertension
B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease
BANF
see neurofibromatosis type II
Beare-Stevenson cutis gyrata syndrome10q26
Benign paroxysmal peritonitis
see Mediterranean fever, familial
Benjamin syndrome
beta-thalassemia
BH4 Deficiency
see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis
see neurofibromatosis type II
biotinidase deficiency
bladder cancer
Bleeding disorders
see factor V Leiden thrombophilia
Bloch-Sulzberger syndrome
see incontinentia pigmenti
Bloom syndrome15q26.1
Bone diseases
Bone marrow diseases
see X-linked sideroblastic anemia
Bonnevie-Ullrich syndrome
see Turner syndrome
Bourneville disease
see tuberous sclerosis
Bourneville phakomatosis
see tuberous sclerosis
Brain diseases
see prion disease
breast cancer
Birt–Hogg–Dubé syndrome17
Brittle bone disease
see osteogenesis imperfecta
Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome
Bronze Diabetes
see hemochromatosis
Bronzed cirrhosis
see hemochromatosis
Bulbospinal muscular atrophy, X-linked
see Kennedy's disease
Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial
CADASIL syndromeP3
CGD Chronic granulomatous disorder
Campomelic dysplasiaC17q24.3-q25.1
Canavan disease
Cancer
Cancer Family syndrome
see hereditary nonpolyposis colorectal cancer
Cancer of breast
see breast cancer [1]
Cancer of the bladder
see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset
see biotinidase deficiency
P3
Cardiomyopathy
see Noonan syndrome
Cat cry syndrome
see Cri du chat
CAVD
see congenital absence of the vas deferens
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome
D22q
CBAVD
see congenital absence of the vas deferens
CEP
see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency
see Fabry disease
X
Cerebelloretinal Angiomatosis, familial
see von Hippel-Lindau disease
P3 (p26-p25)
Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome
P3
Cerebral autosomal dominant ateriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome
P3
Cerebral sclerosis
see tuberous sclerosis
9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
see Rett syndrome
X
Cerebroside Lipidosis syndrome
see Gaucher disease
P1(q21)
CF
see cystic fibrosis [2]
D (most common);
or substitution
CFTR (7q31.2)
CH
see congenital hypothyroidism
Charcot disease
see amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Chondrodystrophia
see achondroplasia
Chondrodystrophy syndrome
see achondroplasia
Chondrodystrophy with sensorineural deafness
see otospondylomegaepiphyseal dysplasia
Chondrogenesis imperfecta
see achondrogenesis, type II
Choreoathetosis self-mutilation hyperuricemia syndrome
see Lesch-Nyhan syndrome
PX
Classic Galactosemia
see galactosemia
P9 (p13)
Classical Ehlers–Danlos syndrome
see Ehlers–Danlos syndrome#classical type
Classical Phenylketonuria
see phenylketonuria
Cleft lip and palate
see Stickler syndrome
Cloverleaf skull with thanatophoric dwarfism
see Thanatophoric dysplasia#type 2
CLS
see Coffin-Lowry syndrome
CMT
see Charcot-Marie-Tooth disease
Cockayne syndrome
Coffin-Lowry syndrome
collagenopathy, types II and XI
Colon Cancer, familial Nonpolyposis
see hereditary nonpolyposis colorectal cancer
Colon cancer, familial
see familial adenomatous polyposis
Colorectal cancer [3]
Complete HPRT deficiency
see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
Compression neuropathy
see hereditary neuropathy with liability to pressure palsies
Congenital adrenal hyperplasia
see 21-hydroxylase deficiency
congenital bilateral absence of vas deferens
see Congenital absence of the vas deferens
Congenital erythropoietic porphyria
Congenital heart disease
Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4
Congenital hypothyroidism
Congenital methemoglobinemia
see Methemoglobinemia#Congenital methaemoglobinaemia
Congenital osteosclerosis
see achondroplasia
Congenital sideroblastic anaemia
see X-linked sideroblastic anemia
X
Connective tissue disease
Conotruncal anomaly face syndrome
see 22q11.2 deletion syndrome
D22q
Cooley's Anemia
see beta-thalassemia
Copper storage disease
see Wilson's disease
13 (q14.3)
Copper transport disease
see Menkes disease
Coproporphyria, hereditary
see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency
see hereditary coproporphyria
Cowden syndrome
CPO deficiency
see hereditary coproporphyria
CPRO deficiency
see hereditary coproporphyria
CPX deficiency
see hereditary coproporphyria
Craniofacial dysarthrosis
see Crouzon syndrome
Craniofacial Dysostosis
see Crouzon syndrome
Cretinism
see congenital hypothyroidism
Creutzfeldt-Jakob disease
see prion disease
Cri du chatD5p
Crohn's disease, fibrostenosingP16q12
Crouzon syndromeFGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS
see Cockayne syndrome
see Cowden syndrome
Curschmann-Batten-Steinert syndrome
see myotonic dystrophy
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome
D-glycerate dehydrogenase deficiency
see hyperoxaluria, primary
Dappled metaphysis syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type
see Alzheimer's disease
Genetic hypercalciuria
see Dent's disease
Xp11.22
DBMD
see muscular dystrophy, Duchenne and Becker types
Deafness with goiter
see Pendred syndrome
Deafness-retinitis pigmentosa syndrome
see Usher syndrome
Deficiency disease, Phenylalanine Hydroxylase
see phenylketonuria
P12q
Degenerative nerve diseases
de Grouchy syndrome 1
see De Grouchy syndrome
D18p
Dejerine-Sottas syndrome
see Charcot-Marie-Tooth disease
Delta-aminolevulinate dehydratase deficiency porphyria
see ALA dehydratase deficiency
Dementia
see CADASIL syndrome
demyelinogenic leukodystrophy
see Alexander disease
Dermatosparactic type of Ehlers–Danlos syndrome
see Ehlers–Danlos syndrome#dermatosparaxis type
Dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type
developmental disabilities
dHMN
see Amyotrophic lateral sclerosis#type 4
DHMN-V
see distal spinal muscular atrophy, type V
DHTR deficiency
see androgen insensitivity syndrome
X
Diffuse Globoid Body Sclerosis
see Krabbe disease
Di George's syndromeD22q
Dihydrotestosterone receptor deficiency
see androgen insensitivity syndrome
X
distal spinal muscular atrophy, type V
DM1
see Myotonic dystrophy#type 1
T19
DM2
see Myotonic dystrophy#type 2
T3
Down syndrome21
DSMAV
see distal spinal muscular atrophy, type V
DSN
see Charcot-Marie-Tooth disease#type 4
DSS
see Charcot-Marie-Tooth disease, type 4
Duchenne/Becker muscular dystrophy
see Muscular dystrophy, Duchenne and Becker type
Dwarf, achondroplastic
see achondroplasia
3
Dwarf, thanatophoric
see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome
see Cockayne syndrome
dysmyelinogenic leukodystrophy
see Alexander disease
Dystrophia myotonica
see myotonic dystrophy
T19
dystrophia retinae pigmentosa-dysostosis syndrome
see Usher syndrome
Early-Onset familial alzheimer disease (EOFAD)
see Alzheimer disease#type 1
see Alzheimer disease#type 3
see Alzheimer disease#type 4
EDS
see Ehlers–Danlos syndrome
Ehlers–Danlos syndrome
Ekman-Lobstein disease
see osteogenesis imperfecta
Entrapment neuropathy
see hereditary neuropathy with liability to pressure palsies
Epiloia
see tuberous sclerosis
EPP
see erythropoietic protoporphyria
Erythroblastic anemia
see beta-thalassemia
Erythrohepatic protoporphyria
see erythropoietic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency
see X-linked sideroblastic anemia
Erythropoietic porphyria
see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria
see congenital erythropoietic porphyria
Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich's ataxia
FA
see fanconi anemia
Fabry diseasePXq22.1
Facial injuries and disorders
factor V Leiden thrombophilia
FALS
see amyotrophic lateral sclerosis
familial acoustic neuroma
see neurofibromatosis type II
familial adenomatous polyposis
familial Alzheimer disease (FAD)
see Alzheimer's disease
familial amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
familial dysautonomia
familial fat-induced hypertriglyceridemia
see lipoprotein lipase deficiency, familial
familial hemochromatosis
see hemochromatosis
familial LPL deficiency
see lipoprotein lipase deficiency, familial
familial nonpolyposis colon cancer
see hereditary nonpolyposis colorectal cancer
familial paroxysmal polyserositis
see Mediterranean fever, familial
familial PCT
see porphyria cutanea tarda
familial pressure-sensitive neuropathy
see hereditary neuropathy with liability to pressure palsies
familial primary pulmonary hypertension (FPPH)
see primary pulmonary hypertension
Familial Turner syndrome
see Noonan syndrome
familial vascular leukoencephalopathy
see CADASIL syndrome
FAP
see familial adenomatous polyposis
FD
see familial dysautonomia
Female pseudo-Turner syndrome
see Noonan syndrome
Ferrochelatase deficiency
see erythropoietic protoporphyria
ferroportin disease
see Haemochromatosis#type 4
Fever
see Mediterranean fever, familial
FG syndrome
FGFR3-associated coronal synostosis
see Muenke syndrome
Fibrinoid degeneration of astrocytes
see Alexander disease
Fibrocystic disease of the pancreas
see cystic fibrosis
FMF
see Mediterranean fever, familial
Folling disease
see phenylketonuria
fra(X) syndrome
see fragile X syndrome
Xq27.3
fragile X syndromeXq27.3
Fragilitas ossium
see osteogenesis imperfecta
FRAXA syndrome
see fragile X syndrome
Xq27.3
FRDA
see Friedreich's ataxia
Friedreich's ataxia
see Friedreich's ataxia
Friedreich's ataxia
FXS
see fragile X syndrome
Xq27.3
G6PD deficiency
Galactokinase deficiency disease
see galactosemia
Galactose-1-phosphate uridyl-transferase deficiency disease
see galactosemia
galactosemia
Galactosylceramidase deficiency disease
see Krabbe disease
Galactosylceramide lipidosis
see Krabbe disease
galactosylcerebrosidase deficiency
see Krabbe disease
galactosylsphingosine lipidosis
see Krabbe disease
GALC deficiency
see Krabbe disease
GALT deficiency
see galactosemia
Gaucher disease
Gaucher-like disease
see pseudo-Gaucher disease
GBA deficiency
see Gaucher disease type 1
GD
see Gaucher's disease
Genetic brain disorders
genetic emphysema
see alpha 1-antitrypsin deficiency
genetic hemochromatosis
see hemochromatosis
Giant cell hepatitis, neonatal
see Neonatal hemochromatosis
GLA deficiency
see Fabry disease
Glioblastoma, retinal
see retinoblastoma
Glioma, retinal
see retinoblastoma
globoid cell leukodystrophy (GCL, GLD)
see Krabbe disease
globoid cell leukoencephalopathy
see Krabbe disease
Glucocerebrosidase deficiency
see Gaucher disease
Glucocerebrosidosis
see Gaucher disease
Glucosyl cerebroside lipidosis
see Gaucher disease
Glucosylceramidase deficiency
see Gaucher disease
Glucosylceramide beta-glucosidase deficiency
see Gaucher disease
Glucosylceramide lipidosis
see Gaucher disease
Glyceric aciduria
see hyperoxaluria, primary
Glycine encephalopathy
see Nonketotic hyperglycinemia
Glycolic aciduria
see hyperoxaluria, primary
GM2 gangliosidosis, type 1
see Tay-Sachs disease
Goiter-deafness syndrome
see Pendred syndrome
Graefe-Usher syndrome
see Usher syndrome
Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum
Guenther porphyria
see congenital erythropoietic porphyria
Gunther disease
see congenital erythropoietic porphyria
Haemochromatosis
see hemochromatosis
Hallgren syndrome
see Usher syndrome
Harlequin type ichthyosis
Hb S disease
see sickle cell anemia
HCH
see hypochondroplasia
HCP
see hereditary coproporphyria
Head and brain malformations
Hearing disorders and deafness
Hearing problems in children
HEF2A
see hemochromatosis#type 2
HEF2B
see hemochromatosis#type 2
Hematoporphyria
see porphyria
Heme synthetase deficiency
see erythropoietic protoporphyria
Hemochromatoses
see hemochromatosis
hemochromatosis
hemoglobin M disease
see methemoglobinemia#beta-globin type
Hemoglobin S disease
see sickle cell anemia
hemophilia
HEP
see hepatoerythropoietic porphyria
hepatic AGT deficiency
see hyperoxaluria, primary
hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome
see Wilson disease
Hereditary arthro-ophthalmopathy
see Stickler syndrome
Hereditary coproporphyriaP3q12
Hereditary dystopic lipidosis
see Fabry disease
Hereditary hemochromatosis (HHC)
see hemochromatosis [4]
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration
Hereditary iron-loading anemia
see X-linked sideroblastic anemia
Hereditary motor and sensory neuropathy
see Charcot-Marie-Tooth disease
Hereditary motor neuronopathy
see spinal muscular atrophy
Hereditary motor neuronopathy, type V
see distal spinal muscular atrophy, type V
Hereditary multiple exostoses
Hereditary nonpolyposis colorectal cancerDNA mismatch repair dysfunction
usually in MSH2 and MLH1 genes
usually chromosomes 2 and 3
Hereditary periodic fever syndrome
see Mediterranean fever, familial
Hereditary Polyposis Coli
see familial adenomatous polyposis
Hereditary pulmonary emphysema
see alpha 1-antitrypsin deficiency
Hereditary resistance to activated protein C
see factor V Leiden thrombophilia
Hereditary sensory and autonomic neuropathy type III
see familial dysautonomia
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia
see Friedreich's ataxia
Hereditary spinal sclerosis
see Friedreich's ataxia
Herrick's anemia
see sickle cell anemia
Heterozygous OSMED
see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia
see Weissenbacher-Zweymüller syndrome
HexA deficiency
see Tay-Sachs disease
Hexosaminidase A deficiency
see Tay-Sachs disease
Hexosaminidase alpha-subunit deficiency (variant B)
see Tay-Sachs disease
HFE-associated hemochromatosis
see hemochromatosis
HGPS
see Progeria
Hippel-Lindau disease
see von Hippel-Lindau disease
HLAH
see hemochromatosis
HMN V
see distal spinal muscular atrophy, type V
HMSN
see Charcot-Marie-Tooth disease
HNPCC
see hereditary nonpolyposis colorectal cancer
HNPP
see hereditary neuropathy with liability to pressure palsies
homocystinuria
Homogentisic acid oxidase deficiency
see alkaptonuria
Homogentisic acidura
see alkaptonuria
Homozygous porphyria cutanea tarda
see hepatoerythropoietic porphyria
HP1
see hyperoxaluria, primary
HP2
see hyperoxaluria, primary
HPA
see hyperphenylalaninemia
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
HSAN type III
see familial dysautonomia
HSAN3
see familial dysautonomia
HSN-III
see familial dysautonomia
Human dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type
Huntington's diseaseT4p16.3
Hutchinson-Gilford progeria syndrome
see progeria
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
see 21-hydroxylase deficiency
Hyperchylomicronemia, familial
see lipoprotein lipase deficiency, familial
Hyperglycinemia with ketoacidosis and leukopenia
see propionic acidemia
Hyperlipoproteinemia type I
see lipoprotein lipase deficiency, familial
hyperoxaluria, primary
hyperphenylalaninaemia
see hyperphenylalaninemia
hyperphenylalaninemia
Hypochondrodysplasia
see hypochondroplasia
Hypochondrogenesis
Hypochondroplasia4p16.3
Hypochromic anemia
see X-linked sideroblastic anemia
Hypocupremia, congenital
see Menkes disease
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency
see Lesch-Nyhan syndrome
IAHSP
see infantile-onset ascending hereditary spastic paralysis
ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies syndrome
20q11.2
Idiopathic hemochromatosis
see hemochromatosis, type 3
Idiopathic neonatal hemochromatosis
see hemochromatosis, neonatal
Idiopathic pulmonary hypertension
see primary pulmonary hypertension
Immune system disorders
see X-linked severe combined immunodeficiency
Incontinentia pigmentiPXq28
Infantile cerebral Gaucher's disease
see Gaucher disease type 2
Infantile Gaucher disease
see Gaucher disease type 2
infantile-onset ascending hereditary spastic paralysis
Infertility
inherited emphysema
see alpha 1-antitrypsin deficiency
Inherited human transmissible spongiform encephalopathies
see prion disease
inherited tendency to pressure palsies
see hereditary neuropathy with liability to pressure palsies
Insley-Astley syndrome
see otospondylomegaepiphyseal dysplasia
Intermittent acute porphyria syndrome
see acute intermittent porphyria
Intestinal polyposis-cutaneous pigmentation syndrome
see Peutz–Jeghers syndrome
IP
see incontinentia pigmenti
Iron storage disorder
see hemochromatosis
Isodicentric 15
see isodicentric 15
Inv dup15q11-14
Isolated deafness
see nonsyndromic deafness
Jackson-Weiss syndrome
JH
see Haemochromatosis#type 2
Joubert syndrome
JPLS
see Juvenile Primary Lateral Sclerosis
ALS2
juvenile amyotrophic lateral sclerosis
see Amyotrophic lateral sclerosis#type 2
Juvenile gout, choreoathetosis, mental retardation syndrome
see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome
see Lesch-Nyhan syndrome
JWS
see Jackson-Weiss syndrome
KD
see X-linked spinal-bulbar muscle atrophy
Kennedy disease
see X-linked spinal-bulbar muscle atrophy
Kennedy spinal and bulbar muscular atrophy
see X-linked spinal-bulbar muscle atrophy
Kerasin histiocytosis
see Gaucher disease
Kerasin lipoidosis
see Gaucher disease
Kerasin thesaurismosis
see Gaucher disease
ketotic glycinemia
see propionic acidemia
ketotic hyperglycinemia
see propionic acidemia
Kidney diseases
see hyperoxaluria, primary
Klinefelter syndrome
Klinefelter syndrome
see Klinefelter syndrome
Kniest dysplasia
Krabbe disease
Lacunar dementia
see CADASIL syndrome
Langer-Saldino achondrogenesis
see achondrogenesis, type II
Langer-Saldino dysplasia
see achondrogenesis, type II
Late-onset Alzheimer disease
see Alzheimer disease#type 2
Late-onset familial Alzheimer disease (AD2)
see Alzheimer disease#type 2
late-onset Krabbe disease (LOKD)
see Krabbe disease
Learning Disorders
see Learning disability
Lentiginosis, perioral
see Peutz-Jeghers syndrome
Lesch-Nyhan syndrome
Leukodystrophies
leukodystrophy with Rosenthal fibers
see Alexander disease
Leukodystrophy, spongiform
see Canavan disease
LFS
see Li-Fraumeni syndrome
Li-Fraumeni syndrome
Lipase D deficiency
see lipoprotein lipase deficiency, familial
LIPD deficiency
see lipoprotein lipase deficiency, familial
Lipidosis, cerebroside
see Gaucher disease
Lipidosis, ganglioside, infantile
see Tay-Sachs disease
Lipoid histiocytosis (kerasin type)
see Gaucher disease
lipoprotein lipase deficiency, familial
Liver diseases
see galactosemia
Lou Gehrig disease
see amyotrophic lateral sclerosis
Louis-Bar syndrome
see ataxia telangiectasia
Lynch syndrome
see hereditary nonpolyposis colorectal cancer
Lysyl-hydroxylase deficiency
see Ehlers–Danlos syndrome#kyphoscoliosis type
Machado-Joseph disease
see Spinocerebellar ataxia#type 3
Male breast cancer
see breast cancer
Male genital disorders
Male Turner syndrome
see Noonan syndrome
Malignant neoplasm of breast
see breast cancer
malignant tumor of breast
see breast cancer
Malignant tumor of urinary bladder
see bladder cancer
Mammary cancer
see breast cancer
Marfan syndrome15
Marker X syndrome
see fragile X syndrome
Martin-Bell syndrome
see fragile X syndrome
McCune–Albright syndrome20 q13.2-13.3
McLeod syndromeX
MEDNIK [5]DAP1S1
Mediterranean Anemia
see beta-thalassemia
Mediterranean fever, familial
Mega-epiphyseal dwarfism
see otospondylomegaepiphyseal dysplasia
Menkea syndrome
see Menkes disease
Menkes disease
Mental retardation with osteocartilaginous abnormalities
see Coffin-Lowry syndrome
Metabolic disorders
Metatropic dwarfism, type II
see Kniest dysplasia
Metatropic dysplasia type II
see Kniest dysplasia
Methemoglobinemia#beta-globin type
methylmalonic acidemia
MFS
see Marfan syndrome
MHAM
see Cowden syndrome
MK
see Menkes disease
Micro syndrome2q21.3
MicrocephalyP1q31 (ASPM)
MMA
see methylmalonic acidemia
MNK
see Menkes disease
Monosomy 1p36 syndrome
see 1p36 deletion syndrome
D1p36
monosomy X
see Turner syndrome
Motor neuron disease, amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
Movement disorders
Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Mucoviscidosis
see cystic fibrosis
Muenke syndrome
Multi-Infarct dementia
see CADASIL syndrome
Multiple carboxylase deficiency, late-onset
see biotinidase deficiency
Multiple hamartoma syndrome
see Cowden syndrome
Multiple neurofibromatosis
see neurofibromatosis
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica
see myotonic dystrophy
Myotonia dystrophica
see myotonic dystrophy
myotonic dystrophy
Myxedema, congenital
see congenital hypothyroidism
Nance-Insley syndrome
see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia
see otospondylomegaepiphyseal dysplasia
NBIA1
see pantothenate kinase-associated neurodegeneration
Neill-Dingwall syndrome
see Cockayne syndrome
Neuroblastoma, retinal
see retinoblastoma
Neurodegeneration with brain iron accumulation type 1
see pantothenate kinase-associated neurodegeneration
Neurofibromatosis type I17q11.2
Neurofibromatosis type II
Neurologic diseases
Neuromuscular disorders
neuronopathy, distal hereditary motor, type V
see Distal spinal muscular atrophy#type V
neuronopathy, distal hereditary motor, with pyramidal features
see Amyotrophic lateral sclerosis#type 4
Niemann-Pick
see Niemann–Pick disease
NPA, NPB, NPC1, NPC2,
Sphingomyelin phosphodiesterase 1
SMPD1
Noack syndrome
see Pfeiffer syndrome
Nonketotic hyperglycinemia
see Glycine encephalopathy
Non-neuronopathic Gaucher disease
see Gaucher disease type 1
Non-phenylketonuric hyperphenylalaninemia
see tetrahydrobiopterin deficiency
nonsyndromic deafness
Noonan syndrome
Norrbottnian Gaucher disease
see Gaucher disease type 3
Ochronosis
see alkaptonuria
Ochronotic arthritis
see alkaptonuria
OI
see osteogenesis imperfecta
Osler-Weber-Rendu disease
see Hereditary hemorrhagic telangiectasia
OSMED
see otospondylomegaepiphyseal dysplasia
osteogenesis imperfecta
Osteopsathyrosis
see osteogenesis imperfecta
Osteosclerosis congenita
see achondroplasia
Oto-spondylo-megaepiphyseal dysplasia
see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Oxalosis
see hyperoxaluria, primary
Oxaluria, primary
see hyperoxaluria, primary
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PBGD deficiency
see acute intermittent porphyria
PCC deficiency
see propionic acidemia
PCT
see porphyria cutanea tarda
PDM
see Myotonic dystrophy#type 2
Pendred syndrome
Periodic disease
see Mediterranean fever, familial
Periodic peritonitis
see Mediterranean fever, familial
Periorificial lentiginosis syndrome
see Peutz-Jeghers syndrome
Peripheral nerve disorders
see familial dysautonomia
Peripheral neurofibromatosis
see neurofibromatosis type I
Peroneal muscular atrophy
see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency
see hyperoxaluria, primary
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylalanine hydroxylase deficiency disease
see phenylketonuria
phenylketonuria
Pheochromocytoma
see von Hippel-Lindau disease
Pierre Robin syndrome with fetal chondrodysplasia
see Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis
see hemochromatosis
PJS
see Peutz-Jeghers syndrome
PKAN
see pantothenate kinase-associated neurodegeneration
PKU
see phenylketonuria
Plumboporphyria
see ALA deficiency porphyria
PMA
see Charcot-Marie-tooth disease
Polycystic kidney diseaseP16 (PKD1) or 4 (PKD2)
polyostotic fibrous dysplasia
see McCune–Albright syndrome
20 q13.2-13.3
polyposis coli
see familial adenomatous polyposis
polyposis, hamartomatous intestinal
see Peutz-Jeghers syndrome
polyposis, intestinal, II
see Peutz-Jeghers syndrome
polyps-and-spots syndrome
see Peutz-Jeghers syndrome
Porphobilinogen synthase deficiency
see ALA deficiency porphyria
porphyria
porphyrin disorder
see porphyria
PPH
see primary pulmonary hypertension
PPOX deficiency
see variegate porphyria
Prader-Labhart-Willi syndrome
see Prader-Willi syndrome
Prader-Willi syndrome
presenile and senile dementia
see Alzheimer's disease
primary hemochromatosis
see hemochromatosis
primary hyperuricemia syndrome
see Lesch-Nyhan syndrome
primary pulmonary hypertension
primary senile degenerative dementia
see Alzheimer's disease
prion disease
procollagen type EDS VII, mutant
see Ehlers–Danlos syndrome#arthrochalasia type
progeria
see Hutchinson Gilford Progeria Syndrome
Progeria-like syndrome
see Cockayne syndrome
progeroid nanism
see Cockayne syndrome
progressive chorea, chronic hereditary (Huntington)
see Huntington's disease
progressive muscular atrophy
see spinal muscular atrophy
progressively deforming osteogenesis imperfecta with normal sclerae
see Osteogenesis imperfecta#Type III
PROMM
see Myotonic dystrophy#type 2
propionic acidemia
propionyl-CoA carboxylase deficiency
see propionic acidemia
protein C deficiency
protein S deficiency
protoporphyria
see erythropoietic protoporphyria
protoporphyrinogen oxidase deficiency
see variegate porphyria
proximal myotonic dystrophy
see Myotonic dystrophy#type 2
proximal myotonic myopathy
see Myotonic dystrophy#type 2
pseudo-Gaucher disease
pseudo-Ullrich-Turner syndrome
see Noonan syndrome
pseudoxanthoma elasticum
psychosine lipidosis
see Krabbe disease
pulmonary arterial hypertension
see primary pulmonary hypertension
pulmonary hypertension
see primary pulmonary hypertension
PWS
see Prader-Willi syndrome
PXE - pseudoxanthoma elasticum
see pseudoxanthoma elasticum
Rb
see retinoblastoma
Recklinghausen disease, nerve
see neurofibromatosis type I
Recurrent polyserositis
see Mediterranean fever, familial
Retinal disorders
Retinitis pigmentosa-deafness syndrome
see Usher syndrome
Retinoblastoma
Rett syndrome
RFALS type 3
see Amyotrophic lateral sclerosis#type 2
Ricker syndrome
see Myotonic dystrophy#type 2
Riley-Day syndrome
see familial dysautonomia
Roussy-Levy syndrome
see Charcot-Marie-Tooth disease
RSTS
see Rubinstein-Taybi syndrome
RTS
see Rett syndrome
see Rubinstein-Taybi syndrome
RTT
see Rett syndrome
Rubinstein-Taybi syndrome
Sack-Barabas syndrome
see Ehlers–Danlos syndrome, vascular type
SADDAN
sarcoma family syndrome of Li and Fraumeni
see Li-Fraumeni syndrome
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
see Li-Fraumeni syndrome
SBLA syndrome
see Li-Fraumeni syndrome
SBMA
see X-linked spinal-bulbar muscle atrophy
SCD
see sickle cell anemia
Schwannoma, acoustic, bilateral
see neurofibromatosis type II
Schwartz–Jampel syndrome
SCIDX1
see X-linked severe combined immunodeficiency
sclerosis tuberosa
see tuberous sclerosis
SDAT
see Alzheimer's disease
SED congenita
see spondyloepiphyseal dysplasia congenita
SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc
see spondyloepiphyseal dysplasia congenita
SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
senile dementia
see Alzheimer disease#type 2
severe achondroplasia with developmental delay and acanthosis nigricans
see SADDAN
Shprintzen syndrome
see 22q11.2 deletion syndrome
D22q
sickle cell anemiaD18q
Siderius X-linked mental retardation syndrome
caused by mutations in the PHF8 gene
PDXp11.22
skeleton-skin-brain syndrome
see SADDAN
Skin pigmentation disorders
SMA
see spinal muscular atrophy
SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I
see spondyloepimetaphyseal dysplasia, Strudwick type
Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
South-African genetic porphyria
see variegate porphyria
spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis
Speech and communication disorders
sphingolipidosis, Tay-Sachs
see Tay-Sachs disease
spinal-bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V
spinal muscular atrophy, distal, with upper limb predominance
see Distal spinal muscular atrophy#type V
spinocerebellar ataxia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
spondylometaepiphyseal dysplasia congenita, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spongy degeneration of central nervous system
see Canavan disease
spongy degeneration of the brain
see Canavan disease
spongy degeneration of white matter in infancy
see Canavan disease
sporadic primary pulmonary hypertension
see primary pulmonary hypertension
SSB syndrome
see SADDAN
steely hair syndrome
see Menkes disease
Steinert disease
see myotonic dystrophy
Steinert myotonic dystrophy syndrome
see myotonic dystrophy
Stickler syndrome
stroke
see CADASIL syndrome
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
subacute neuronopathic Gaucher disease
see Gaucher disease type 3
Swedish genetic porphyria
see acute intermittent porphyria
Swedish porphyria
see acute intermittent porphyria
Swiss cheese cartilage dysplasia
see Kniest dysplasia
Tay-Sachs disease
TD - thanatophoric dwarfism
see thanatophoric dysplasia
TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2
Telangiectasia, cerebello-oculocutaneous
see ataxia telangiectasia
Testicular feminization syndrome
see androgen insensitivity syndrome
tetrahydrobiopterin deficiency
TFM - testicular feminization syndrome
see androgen insensitivity syndrome
thalassemia intermedia
see beta-thalassemia
Thalassemia Major
see beta-thalassemia
thanatophoric dysplasia
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
see factor V Leiden thrombophilia
Thyroid disease
Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies
Total HPRT deficiency
see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
see Lesch-Nyhan syndrome
Transmissible dementias
see prion disease
Transmissible spongiform encephalopathies
see prion disease
Treacher Collins syndrome5q32-q33.1
Trias fragilitis ossium
see osteogenesis imperfecta#Type I
triple X syndrome
Triplo X syndrome
see triple X syndrome
Trisomy 21
see Down syndrome
Trisomy X
see triple X syndrome
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
TS
see Turner syndrome
TSD
see Tay-Sachs disease
TSEs
see prion disease
tuberose sclerosis
see tuberous sclerosis
tuberous sclerosis
Turner syndrome
Turner syndrome in female with X chromosome
see Noonan syndrome
Turner's phenotype, karyotype normal
see Noonan syndrome
Turner's syndrome
see Turner syndrome
Turner-like syndrome
see Noonan syndrome
Type 2 Gaucher disease
see Gaucher disease type 2
Type 3 Gaucher disease
see Gaucher disease type 3
UDP-galactose-4-epimerase deficiency disease
see galactosemia
UDP glucose 4-epimerase deficiency disease
see galactosemia
UDP glucose hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
Ullrich-Noonan syndrome
see Noonan syndrome
Ullrich-Turner syndrome
see Turner syndrome
Undifferentiated deafness
see nonsyndromic deafness
UPS deficiency
see acute intermittent porphyria
Urinary bladder cancer
see bladder cancer
UROD deficiency
see porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda
Uroporphyrinogen synthase deficiency
see acute intermittent porphyria
UROS deficiency
see congenital erythropoietic porphyria
Usher syndrome
UTP hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
Van Bogaert-Bertrand syndrome
see Canavan disease
Van der Hoeve syndrome
see osteogenesis imperfecta#Type I
variegate porphyria
Velocardiofacial syndrome
see 22q11.2 deletion syndrome
D22q
VHL syndrome
see von Hippel-Lindau disease
Vision impairment and blindness
see Alström syndrome
Von Bogaert-Bertrand disease
see Canavan disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease
see hemochromatosis
von Recklinghausen disease
see neurofibromatosis type I
VP
see variegate porphyria
Vrolik disease
see osteogenesis imperfecta
Waardenburg syndrome
Warburg Sjo Fledelius Syndrome
see Micro syndrome
2q21.3
WD
see Wilson disease
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Wilson's disease
see Wilson disease
Wolf–Hirschhorn syndromeD4p
Wolff Periodic disease
see Mediterranean fever, familial
WZS
see Weissenbacher-Zweymüller syndrome
Xeroderma pigmentosumERCC415
X-linked mental retardation and macroorchidism
see fragile X syndrome
X-linked primary hyperuricemia
see Lesch-Nyhan syndrome
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy
see Kennedy's disease
X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome
X-SCID
see X-linked severe combined immunodeficiency
XLSA
see X-linked sideroblastic anemia
XSCID
see X-linked severe combined immunodeficiency
XXX syndrome
see triple X syndrome
XXXX syndrome
see 48, XXXX
XXXXX syndrome
see 49, XXXXX
XXY syndrome
see Klinefelter syndrome
XXY trisomy
see Klinefelter syndrome
XYY karyotype
see 47,XYY syndrome
XYY syndrome
see 47,XYY syndrome
YY syndrome
see 47,XYY syndrome

See also[edit]

References[edit]

  1. ^ [1]
  2. ^ [2]
  3. ^ [3]
  4. ^ [4]
  5. ^ [5][6]