List of genetic disorders

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Contents 1 0–9 2 A 3 B 4 C 5 D 6 E 7 F 8 G 9 H 10 I 11 J 12 K 13 L 14 M 15 N 16 O 17 P 18 R 19 S 20 T 21 U 22 V 23 W 24 X 25 Y 26 Acknowledgement and Attribution Regarding Sources of Content

The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.

• P - Point mutation, or any insertion/deletion entirely inside one gene
• D - Deletion of a gene or genes
• C - Whole chromosome extra, missing, or both - see chromosomal aberrations
• T - Trinucleotide repeat disorders - gene is extended in length

More common disorders

Disorder	Mutation	Chromosome
22q11.2 deletion syndrome	D	22q
Angelman syndrome	DCP	15
Canavan disease		17p
Celiac disease
Charcot-Marie-Tooth disease
Color blindness	P	X
Cri du Chat	D	5
Cystic fibrosis	P	7q
Down syndrome	C	21
Duchenne muscular dystrophy	D	Xp
Haemophilia	P	X
Klinefelter syndrome	C	X
Neurofibromatosis		17q/22q/?
Phenylketonuria	P	12q
Prader-Willi syndrome	DC	15
Sickle-cell disease	P	11p
Tay-Sachs disease	P	15
Turner syndrome	C	X

0–9

Disorder	Mutation	Chromosome
1p36 deletion syndrome	D	1p36
18p deletion syndrome	D	18p
21-hydroxylase deficiency		6p21.3
45,X see Turner syndrome	C	X
47,XX,+21 see Down syndrome	C	21
47,XXX see triple X syndrome	C	X
47,XXY see Klinefelter syndrome	C	X
47,XY,+21 see Down syndrome	C	21
47,XYY syndrome	C	Y
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	D	5p
5p- syndrome see Cri du chat	D	5p

A

Disorder	Mutation	Chromosome
A-T see ataxia-telangiectasia
AAT see alpha-1 antitrypsin deficiency
Absence of vas deferens see congenital bilateral absence of vas deferens
Absent vasa see congenital bilateral absence of vas deferens
aceruloplasminemia
ACG2 see achondrogenesis type II
ACH see achondroplasia
Achondrogenesis type II
achondroplasia	substitution	4p16.3
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
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
Alcaptonuria see alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis see alkaptonuria
alpha-1 antitrypsin deficiency		14q32.1
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	P	Xq22.1
ALS see amyotrophic lateral sclerosis
Alstrom syndrome
ALX see Alexander disease
Alzheimer disease
Alzheimer's disease see Alzheimer disease
Amelogenesis Imperfecta see 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	P	Xq22.1
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's disease	P	Xq22.1
Angiokeratoma diffuse see Fabry's 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	D	22q
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

Disorder	Mutation	Chromosome
B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease
BANF see neurofibromatosis 2
Beare-Stevenson cutis gyrata syndrome		10q26
Benign paroxysmal peritonitis see Mediterranean fever, familial
Benjamin syndrome
beta thalassemia
BH4 Deficiency see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2
biotinidase deficiency
bladder cancer
Bleeding disorders see factor V Leiden thrombophilia
Bloch-Sulzberger syndrome see incontinentia pigmenti
Bloom syndrome		15q26.1
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 syndrome		17
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 disease
Burger-Grutz syndrome see lipoprotein lipase deficiency, familial

C

Disorder	Mutation	Chromosome
CADASIL	P	3
CGD Chronic Granulomatous Disorder
Camptomelic dysplasia	C	17q24.3-q25.1
Canavan disease
Cancer
Cancer Family syndrome see hereditary nonpolyposis colorectal cancer
Cancer of breast see breast cancer
Cancer of the bladder see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency	P	3
Cardiomyopathy see Noonan syndrome
Cat cry syndrome see Cri du chat
CAVD see congenital bilateral absence of vas deferens
Caylor cardiofacial syndrome see 22q11.2 deletion syndrome	D	22q
CBAVD see congenital bilateral absence of vas deferens
Celiac Disease
CEP see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency see Fabry disease		X
Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease	P	3 (p26-p25)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL	P	3
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL	P	3
Cerebral sclerosis see tuberous sclerosis		9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia see Rett syndrome		X
Cerebroside Lipidosis syndrome see Gaucher disease	P	1(q21)
CF see cystic fibrosis	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	P	X
Classic Galactosemia see galactosemia	P	9 (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
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
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
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	D	22q
Cooley's Anemia see beta thalassemia
Copper storage disease see Wilson disease		13 (q14.3)
Copper transport disease see Menkes syndrome
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 chat	D	5p
Crohn's disease, fibrostenosing	P	16q12
Crouzon syndrome		FGFR2 (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

Disorder	Mutation	Chromosome
D-glycerate dehydrogenase deficiency see hyperoxaluria, primary
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type see Alzheimer 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	P	12q
Degenerative nerve diseases
de Grouchy syndrome 1 see 18p deletion syndrome	D	18p
Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease
Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency
Dementia see CADASIL
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
DiGeorge syndrome	D	22q
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome		X
distal spinal muscular atrophy, type V
DM1 see Myotonic dystrophy#type 1	T	19
DM2 see Myotonic dystrophy#type 2	T	3
Down syndrome		21
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 types
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	T	19
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome

E

Disorder	Mutation	Chromosome
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 ataxia

F

Disorder	Mutation	Chromosome
Fabry disease	P	Xq22.1
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 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
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
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 syndrome		Xq27.3
Fragilitas ossium see osteogenesis imperfecta
FRAXA syndrome see fragile X syndrome		Xq27.3
FRDA see Friedreich ataxia
Friedreich ataxia
FXS see fragile X syndrome		Xq27.3

G

Disorder	Mutation	Chromosome
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

H

Disorder	Mutation	Chromosome
Haemochromatosis see hemochromatosis
Hallgren syndrome see Usher syndrome
Harlequin 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 coproporphyria
Hereditary dystopic lipidosis see Fabry disease
Hereditary hemochromatosis (HHC) see hemochromatosis
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 cancer	DNA 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 ataxia
Hereditary spinal sclerosis see Friedreich 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 Hutchinson-Gilford progeria syndrome
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 sy