Genetic Disorders List
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
Disorder |
Mutation |
Chromosome |
D |
22q |
|
DCP |
15 |
|
17p |
||
P |
X |
|
D |
5 |
|
P |
7q |
|
C |
21 |
|
D |
Xp |
|
P |
6 |
|
P |
X |
|
C |
X |
|
17q/22q/? |
||
P |
12q |
|
P |
||
DC |
15 |
|
P |
11p |
|
P |
15 |
|
C |
X |
[edit] Full list
Sortable table |
||
Disorder name |
Mutation type |
Chromosome |
D |
1p36 |
|
D |
18p |
|
6p21.3 |
||
45,X |
C |
X |
47,XX,+21 |
C |
21 |
47,XXX |
C |
X |
47,XXY |
C |
X |
47,XY,+21 |
C |
21 |
C |
Y |
|
5-ALA dehydratase-deficient porphyria |
||
5-aminolaevulinic dehydratase deficiency porphyria |
||
5p deletion syndrome |
D |
5p |
5p- syndrome |
D |
5p |
A-T |
||
Absence of vas deferens |
||
Absent vasa |
||
ACG2 |
||
ACH |
||
substitution |
4p16.3 |
|
Acid beta-glucosidase deficiency |
||
Acrocephalosyndactyly (Apert) |
||
acrocephalosyndactyly, type V |
||
Acrocephaly |
||
Acute cerebral Gaucher's disease |
||
ACY2 deficiency |
||
AD |
||
Adelaide-type craniosynostosis |
||
Adenomatous Polyposis Coli |
||
Adenomatous Polyposis of the Colon |
||
ADP |
||
Adrenal gland disorders |
||
Adrenogenital syndrome |
||
AIP |
||
AKU |
||
ALA dehydratase porphyria |
||
ALA-D porphyria |
||
Alcaptonuria |
||
Alkaptonuric ochronosis |
||
alpha-1 proteinase inhibitor |
14q32.1 |
|
alpha-1 related emphysema |
14q32.1 |
|
Alpha-galactosidase A deficiency |
P |
Xq22.1 |
ALX |
||
Amino levulinic acid dehydratase deficiency |
||
Aminoacylase 2 deficiency |
||
Anderson-Fabry disease |
P |
Xq22.1 |
Anemia, hereditary sideroblastic |
X |
|
Anemia, sex-linked hypochromic sideroblastic |
X |
|
Anemia, splenic, familial |
||
Angiokeratoma Corporis Diffusum |
P |
Xq22.1 |
Angiokeratoma diffuse |
||
Angiomatosis retinae |
||
ANH1 |
X |
|
APC resistance, Leiden type |
||
AR deficiency |
||
AR-CMT2 |
||
Arachnodactyly |
||
Arthro-ophthalmopathy, hereditary progressive |
||
Arthrochalasis multiplex congenita |
||
AS |
||
Asp deficiency |
||
Aspa deficiency |
||
Aspartoacylase deficiency |
||
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome |
||
autosomal dominant juvenile ALS |
||
Autosomal dominant opitz G/BBB syndrome |
D |
22q |
autosomal recessive form of juvenile ALS type 3 |
||
Autosomal recessive nonsyndromic hearing loss |
||
Autosomal Recessive Sensorineural Hearing Impairment and Goiter |
||
AxD |
||
Ayerza syndrome |
||
B variant of the Hexosaminidase GM2 gangliosidosis |
||
BANF |
||
10q26 |
||
Benign paroxysmal peritonitis |
||
BH4 Deficiency |
||
Bilateral Acoustic Neurofibromatosis |
||
Bleeding disorders |
||
Bloch-Sulzberger syndrome |
||
15q26.1 |
||
Bone marrow diseases |
||
Bonnevie-Ullrich syndrome |
||
Bourneville disease |
||
Bourneville phakomatosis |
||
Brain diseases |
||
17 |
||
Brittle bone disease |
||
Broad Thumb-Hallux syndrome |
||
Bronze Diabetes |
||
Bronzed cirrhosis |
||
Bulbospinal muscular atrophy, X-linked |
||
Burger-Grutz syndrome |
||
P |
3 |
|
C |
17q24.3-q25.1 |
|
Cancer Family syndrome |
||
Cancer of breast |
||
Cancer of the bladder |
||
Carboxylase Deficiency, Multiple, Late-Onset |
P |
3 |
Cardiomyopathy |
||
Cat cry syndrome |
||
Caylor cardiofacial syndrome |
D |
22q |
Ceramide trihexosidase deficiency |
X |
|
Cerebelloretinal Angiomatosis, familial |
P |
3 (p26-p25) |
Cerebral arteriopathy |
P |
3 |
Cerebral autosomal dominant ateriopathy |
P |
3 |
Cerebral sclerosis |
9 (q34), 16 (p13.3) |
|
Cerebroatrophic Hyperammonemia |
X |
|
Cerebroside Lipidosis syndrome |
P |
1(q21) |
CF |
D (most common); |
CFTR (7q31.2) |
Charcot disease |
||
Chondrodystrophia |
||
Chondrodystrophy syndrome |
||
Chondrodystrophy with sensorineural deafness |
||
Chondrogenesis imperfecta |
||
Choreoathetosis self-mutilation hyperuricemia syndrome |
P |
X |
Classic Galactosemia |
P |
9 (p13) |
Classical Ehlers–Danlos syndrome |
||
Classical Phenylketonuria |
||
Cleft lip and palate |
||
Cloverleaf skull with thanatophoric dwarfism |
||
CLS |
||
CMT |
||
Colon Cancer, familial Nonpolyposis |
||
Colon cancer, familial |
||
Complete HPRT deficiency |
||
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency |
||
Compression neuropathy |
||
Congenital adrenal hyperplasia |
||
congenital bilateral absence of vas deferens |
||
Congenital hypomyelination |
||
Congenital methemoglobinemia |
||
Congenital osteosclerosis |
||
Congenital sideroblastic anaemia |
X |
|
Conotruncal anomaly face syndrome |
D |
22q |
Cooley's Anemia |
||
Copper storage disease |
13 (q14.3) |
|
Copper transport disease |
||
Coproporphyria, hereditary |
||
Coproporphyrinogen oxidase deficiency |
||
CPO deficiency |
||
CPRO deficiency |
||
CPX deficiency |
||
Craniofacial dysarthrosis |
||
Craniofacial Dysostosis |
||
Cretinism |
||
Creutzfeldt-Jakob disease |
||
D |
5p |
|
P |
16q12 |
|
FGFR2 (10q25.3-q26) |
||
Crouzon syndrome with acanthosis nigricans |
||
CS |
||
Curschmann-Batten-Steinert syndrome |
||
cutis gyrata syndrome of Beare-Stevenson |
||
D-glycerate dehydrogenase deficiency |
||
Dappled metaphysis syndrome |
||
DAT - Dementia Alzheimer's type |
||
Genetic hypercalciuria |
Xp11.22 |
|
Deafness with goiter |
||
Deafness-retinitis pigmentosa syndrome |
||
Deficiency disease, Phenylalanine Hydroxylase |
P |
12q |
de Grouchy syndrome 1 |
D |
18p |
Dejerine-Sottas syndrome |
||
Delta-aminolevulinate dehydratase deficiency porphyria |
||
Dementia |
||
demyelinogenic leukodystrophy |
||
Dermatosparactic type of Ehlers–Danlos syndrome |
||
Dermatosparaxis |
||
DHMN-V |
||
DHTR deficiency |
X |
|
Diffuse Globoid Body Sclerosis |
||
D |
22q |
|
Dihydrotestosterone receptor deficiency |
X |
|
DM1 |
T |
19 |
DM2 |
T |
3 |
21 |
||
Duchenne/Becker muscular dystrophy |
||
Dwarf, achondroplastic |
3 |
|
Dwarf, thanatophoric |
||
Dwarfism-retinal atrophy-deafness syndrome |
||
dysmyelinogenic leukodystrophy |
||
Dystrophia myotonica |
T |
19 |
dystrophia retinae pigmentosa-dysostosis syndrome |
||
Early-Onset familial alzheimer disease (EOFAD) |
||
EDS |
||
Ekman-Lobstein disease |
||
Entrapment neuropathy |
||
Epiloia |
||
Erythroblastic anemia |
||
Erythrohepatic protoporphyria |
||
Erythroid 5-aminolevulinate synthetase deficiency |
||
Erythropoietic porphyria |
||
Erythropoietic uroporphyria |
||
Eye cancer |
||
FA |
||
P |
Xq22.1 |
|
FALS |
||
familial acoustic neuroma |
||
familial Alzheimer disease (FAD) |
||
familial amyotrophic lateral sclerosis |
||
familial fat-induced hypertriglyceridemia |
||
familial hemochromatosis |
||
familial LPL deficiency |
||
familial nonpolyposis colon cancer |
||
familial paroxysmal polyserositis |
||
familial PCT |
||
familial pressure sensitive neuropathy |
||
familial primary pulmonary hypertension (FPPH) |
||
Familial Turner syndrome |
||
familial vascular leukoencephalopathy |
||
FD |
||
Female pseudo-Turner syndrome |
||
Ferrochelatase deficiency |
||
ferroportin disease |
||
Fever |
||
FGFR3-associated coronal synostosis |
||
Fibrinoid degeneration of astrocytes |
||
Fibrocystic disease of the pancreas |
||
Folling disease |
||
fra(X) syndrome |
Xq27.3 |
|
Xq27.3 |
||
Fragilitas ossium |
||
FRAXA syndrome |
Xq27.3 |
|
FRDA |
||
FXS |
Xq27.3 |
|
Galactokinase deficiency disease |
||
Galactose-1-phosphate uridyl-transferase deficiency disease |
||
Galactosylceramidase deficiency disease |
||
Galactosylceramide lipidosis |
||
galactosylcerebrosidase deficiency |
||
galactosylsphingosine lipidosis |
||
GALC deficiency |
||
GALT deficiency |
||
Gaucher-like disease |
||
GBA deficiency |
||
GD |
||
genetic emphysema |
||
genetic hemochromatosis |
||
Giant cell hepatitis, neonatal |
||
GLA deficiency |
||
Glioblastoma, retinal |
||
Glioma, retinal |
||
globoid cell leukodystrophy (GCL, GLD) |
||
globoid cell leukoencephalopathy |
||
Glucocerebrosidase deficiency |
||
Glucocerebrosidosis |
||
Glucosyl cerebroside lipidosis |
||
Glucosylceramidase deficiency |
||
Glucosylceramide beta-glucosidase deficiency |
||
Glucosylceramide lipidosis |
||
Glyceric aciduria |
||
Glycine encephalopathy |
||
Glycolic aciduria |
||
GM2 gangliosidosis, type 1 |
||
Goiter-deafness syndrome |
||
Graefe-Usher syndrome |
||
Gronblad-Strandberg syndrome |
||
Guenther porphyria |
||
Gunther disease |
||
Haemochromatosis |
||
Hallgren syndrome |
||
Hb S disease |
||
HCH |
||
HCP |
||
HEF2A |
||
HEF2B |
||
Hematoporphyria |
||
Heme synthetase deficiency |
||
Hemochromatoses |
||
hemoglobin M disease |
||
Hemoglobin S disease |
||
hepatic AGT deficiency |
||
Hepatolenticular degeneration syndrome |
||
Hereditary arthro-ophthalmopathy |
||
P |
3q12 |
|
Hereditary dystopic lipidosis |
||
Hereditary hemochromatosis (HHC) |
||
Hereditary Inclusion Body Myopathy |
||
Hereditary iron-loading anemia |
||
Hereditary motor and sensory neuropathy |
||
Hereditary motor neuronopathy |
||
Hereditary motor neuronopathy, type V |
||
DNA mismatch repair dysfunction |
usually chromosomes 2 and 3 |
|
Hereditary periodic fever syndrome |
||
Hereditary Polyposis Coli |
||
Hereditary pulmonary emphysema |
||
Hereditary resistance to activated protein C |
||
Hereditary sensory and autonomic neuropathy type III |
||
Hereditary spastic paraplegia |
||
Hereditary spinal ataxia |
||
Hereditary spinal sclerosis |
||
Herrick's anemia |
||
Heterozygous OSMED |
||
Heterozygous otospondylomegaepiphyseal dysplasia |
||
HexA deficiency |
||
Hexosaminidase A deficiency |
||
Hexosaminidase alpha-subunit deficiency (variant B) |
||
HFE-associated hemochromatosis |
||
HGPS |
||
Hippel-Lindau disease |
||
HLAH |
||
HMSN |
||
HNPP |
||
Homogentisic acid oxidase deficiency |
||
Homogentisic acidura |
||
Homozygous porphyria cutanea tarda |
||
HP1 |
||
HP2 |
||
HPA |
||
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency |
||
HSAN type III |
||
HSAN3 |
||
HSN-III |
||
Human dermatosparaxis |
||
T |
4p16.3 |
|
Hutchinson-Gilford progeria syndrome |
||
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
||
Hyperchylomicronemia, familial |
||
Hyperglycinemia with ketoacidosis and leukopenia |
||
Hyperlipoproteinemia type I |
||
hyperphenylalaninaemia |
||
Hypochondrodysplasia |
||
4p16.3 |
||
Hypochromic anemia |
||
Hypocupremia, congenital |
||
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency |
||
IAHSP |
||
ICF syndrome |
20q11.2 |
|
Idiopathic hemochromatosis |
||
Idiopathic neonatal hemochromatosis |
||
Idiopathic pulmonary hypertension |
||
Immune system disorders |
||
P |
Xq28 |
|
Infantile cerebral Gaucher's disease |
||
Infantile Gaucher disease |
||
inherited emphysema |
||
Inherited human transmissible spongiform encephalopathies |
||
inherited tendency to pressure palsies |
||
Insley-Astley syndrome |
||
Intermittent acute porphyria syndrome |
||
Intestinal polyposis-cutaneous pigmentation syndrome |
||
IP |
||
Iron storage disorder |
||
Isodicentric 15 |
Inv dup |
15q11-14 |
Isolated deafness |
||
JH |
||
juvenile amyotrophic lateral sclerosis |
||
Juvenile gout, choreoathetosis, mental retardation syndrome |
||
juvenile hyperuricemia syndrome |
||
JWS |
||
Kennedy disease |
||
Kennedy spinal and bulbar muscular atrophy |
||
Kerasin histiocytosis |
||
Kerasin lipoidosis |
||
Kerasin thesaurismosis |
||
ketotic glycinemia |
||
ketotic hyperglycinemia |
||
Kidney diseases |
||
Klinefelter's syndrome |
||
Lacunar dementia |
||
Langer-Saldino achondrogenesis |
||
Langer-Saldino dysplasia |
||
Late-onset Alzheimer disease |
||
Late-onset familial Alzheimer disease (AD2) |
||
late-onset Krabbe disease (LOKD) |
||
Lentiginosis, perioral |
||
leukodystrophy with Rosenthal fibers |
||
Leukodystrophy, spongiform |
||
LFS |
||
Lipase D deficiency |
||
LIPD deficiency |
||
Lipidosis, cerebroside |
||
Lipidosis, ganglioside, infantile |
||
Lipoid histiocytosis (kerasin type) |
||
Liver diseases |
||
Lou Gehrig disease |
||
Louis-Bar syndrome |
||
Lynch syndrome |
||
Lysyl-hydroxylase deficiency |
||
Machado-Joseph disease |
||
Male breast cancer |
||
Male Turner syndrome |
||
Malignant neoplasm of breast |
||
malignant tumor of breast |
||
Malignant tumor of urinary bladder |
||
Mammary cancer |
||
15 |
||
Marker X syndrome |
||
Martin-Bell syndrome |
||
20 q13.2-13.3 |
||
X |
||
MEDNIK [5] |
D |
|
Mediterranean Anemia |
||
Mega-epiphyseal dwarfism |
||
Menkea syndrome |
||
Mental retardation with osteocartilaginous abnormalities |
||
Metatropic dwarfism, type II |
||
Metatropic dysplasia type II |
||
MFS |
||
MHAM |
||
MK |
||
2q21.3 |
||
P |
1q31 (ASPM) |
|
MMA |
||
MNK |
||
Monosomy 1p36 syndrome |
D |
1p36 |
monosomy X |
||
Motor neuron disease, amyotrophic lateral sclerosis |
||
Mucopolysaccharidosis (MPS I) |
||
Mucoviscidosis |
||
Multi-Infarct dementia |
||
Multiple carboxylase deficiency, late-onset |
||
Multiple hamartoma syndrome |
||
Multiple neurofibromatosis |
||
Myotonia atrophica |
||
Myotonia dystrophica |
||
Myxedema, congenital |
||
Nance-Insley syndrome |
||
Nance-Sweeney chondrodysplasia |
||
Neill-Dingwall syndrome |
||
Neuroblastoma, retinal |
||
Neurodegeneration with brain iron accumulation type 1 |
||
17q11.2 |
||
neuronopathy, distal hereditary motor, type V |
||
neuronopathy, distal hereditary motor, with pyramidal features |
||
Niemann-Pick |
||
Noack syndrome |
||
Nonketotic hyperglycinemia |
||
Non-neuronopathic Gaucher disease |
||
Non-phenylketonuric hyperphenylalaninemia |
||
Norrbottnian Gaucher disease |
||
Ochronosis |
||
Ochronotic arthritis |
||
OI |
||
Osler-Weber-Rendu disease |
||
OSMED |
||
Osteopsathyrosis |
||
Osteosclerosis congenita |
||
Oto-spondylo-megaepiphyseal dysplasia |
||
Oxalosis |
||
Oxaluria, primary |
||
PBGD deficiency |
||
PCC deficiency |
||
PCT |
||
PDM |
||
Periodic disease |
||
Periodic peritonitis |
||
Periorificial lentiginosis syndrome |
||
Peripheral nerve disorders |
||
Peripheral neurofibromatosis |
||
Peroneal muscular atrophy |
||
peroxisomal alanine:glyoxylate aminotransferase deficiency |
||
Phenylalanine hydroxylase deficiency disease |
||
Pierre Robin syndrome with fetal chondrodysplasia |
||
PJS |
||
PKU |
||
Plumboporphyria |
||
PMA |
||
P |
||
polyostotic fibrous dysplasia |
20 q13.2-13.3 |
|
polyposis coli |
||
polyposis, hamartomatous intestinal |
||
polyposis, intestinal, II |
||
polyps-and-spots syndrome |
||
Porphobilinogen synthase deficiency |
||
porphyrin disorder |
||
PPOX deficiency |
||
Prader-Labhart-Willi syndrome |
||
presenile and senile dementia |
||
primary hemochromatosis |
||
primary hyperuricemia syndrome |
||
primary senile degenerative dementia |
||
procollagen type EDS VII, mutant |
||
progeria |
||
Progeria-like syndrome |
||
progeroid nanism |
||
progressive chorea, chronic hereditary (Huntington) |
||
progressive muscular atrophy |
||
progressively deforming osteogenesis imperfecta with normal sclerae |
||
PROMM |
||
propionyl-CoA carboxylase deficiency |
||
protoporphyria |
||
protoporphyrinogen oxidase deficiency |
||
proximal myotonic dystrophy |
||
proximal myotonic myopathy |
||
pseudo-Ullrich-Turner syndrome |
||
psychosine lipidosis |
||
pulmonary arterial hypertension |
||
pulmonary hypertension |
||
PWS |
||
PXE - pseudoxanthoma elasticum |
||
Rb |
||
Recklinghausen disease, nerve |
||
Recurrent polyserositis |
||
Retinitis pigmentosa-deafness syndrome |
||
RFALS type 3 |
||
Ricker syndrome |
||
Riley-Day syndrome |
||
Roussy-Levy syndrome |
||
RSTS |
||
RTS |
||
RTT |
||
Sack-Barabas syndrome |
||
sarcoma family syndrome of Li and Fraumeni |
||
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome |
||
SBLA syndrome |
||
SCD |
||
Schwannoma, acoustic, bilateral |
||
sclerosis tuberosa |
||
SDAT |
||
SED congenita |
||
SED Strudwick |
||
SEMD, Strudwick type |
||
senile dementia |
||
severe achondroplasia with developmental delay and acanthosis nigricans |
||
Shprintzen syndrome |
D |
22q |
D |
18q |
|
Siderius X-linked mental retardation syndrome |
PD |
Xp11.22 |
skeleton-skin-brain syndrome |
||
SMA |
||
SMED, Strudwick type |
||
SMED, type I |
||
South-African genetic porphyria |
||
spastic paralysis, infantile onset ascending |
||
sphingolipidosis, Tay-Sachs |
||
spinal muscular atrophy, distal type V |
||
spinal muscular atrophy, distal, with upper limb predominance |
||
spondyloepiphyseal dysplasia |
||
spondylometaepiphyseal dysplasia congenita, Strudwick type |
||
spondylometaphyseal dysplasia (SMD) |
||
spondylometaphyseal dysplasia, Strudwick type |
||
spongy degeneration of central nervous system |
||
spongy degeneration of the brain |
||
spongy degeneration of white matter in infancy |
||
sporadic primary pulmonary hypertension |
||
SSB syndrome |
||
steely hair syndrome |
||
Steinert disease |
||
Steinert myotonic dystrophy syndrome |
||
stroke |
||
Strudwick syndrome |
||
subacute neuronopathic Gaucher disease |
||
Swedish genetic porphyria |
||
Swedish porphyria |
||
Swiss cheese cartilage dysplasia |
||
TD - thanatophoric dwarfism |
||
TD with straight femurs and cloverleaf skull |
||
Telangiectasia, cerebello-oculocutaneous |
||
Testicular feminization syndrome |
||
TFM - testicular feminization syndrome |
||
thalassemia intermedia |
||
Thalassemia Major |
||
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type |
||
Tomaculous neuropathy |
||
Total HPRT deficiency |
||
Total hypoxanthine-guanine phosphoribosyl transferase deficiency |
||
Transmissible dementias |
||
Transmissible spongiform encephalopathies |
||
5q32-q33.1 |
||
Trias fragilitis ossium |
||
Triplo X syndrome |
||
Trisomy 21 |
||
Trisomy X |
||
Troisier-Hanot-Chauffard syndrome |
||
TS |
||
TSD |
||
TSEs |
||
tuberose sclerosis |
||
Turner syndrome in female with X chromosome |
||
Turner's phenotype, karyotype normal |
||
Turner's syndrome |
||
Turner-like syndrome |
||
Type 2 Gaucher disease |
||
Type 3 Gaucher disease |
||
UDP-galactose-4-epimerase deficiency disease |
||
UDP glucose 4-epimerase deficiency disease |
||
UDP glucose hexose-1-phosphate uridylyltransferase deficiency |
||
Ullrich-Noonan syndrome |
||
Ullrich-Turner syndrome |
||
Undifferentiated deafness |
||
UPS deficiency |
||
Urinary bladder cancer |
||
UROD deficiency |
||
Uroporphyrinogen decarboxylase deficiency |
||
Uroporphyrinogen synthase deficiency |
||
UROS deficiency |
||
UTP hexose-1-phosphate uridylyltransferase deficiency |
||
Van Bogaert-Bertrand syndrome |
||
Van der Hoeve syndrome |
||
Velocardiofacial syndrome |
D |
22q |
VHL syndrome |
||
Vision impairment and blindness |
||
Von Bogaert-Bertrand disease |
||
Von Recklenhausen-Applebaum disease |
||
von Recklinghausen disease |
||
VP |
||
Vrolik disease |
||
Warburg Sjo Fledelius Syndrome |
2q21.3 |
|
WD |
||
Wilson's disease |
||
D |
4p |
|
Wolff Periodic disease |
||
ERCC4 |
15 |
|
X-linked mental retardation and macroorchidism |
||
X-linked primary hyperuricemia |
||
X-linked spinal-bulbar muscle atrophy |
||
X-linked uric aciduria enzyme defect |
||
XLSA |
||
XXX syndrome |
||
XXXX syndrome |
||
XXXXX syndrome |
||
XXY syndrome |
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XXY trisomy |
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XYY karyotype |
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XYY syndrome |
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YY syndrome |