List of genetic disorders

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of fertilization 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

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
Hemophilia	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
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
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
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
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
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
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 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 disease	T	gene IT-15 on chromosome 4
Hutchinson-Gilford progeria syndrome
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
hypochondroplasia
Hypochromic anemia see X-linked sideroblastic anemia
Hypocupremia, congenital see Menkes syndrome
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome

I

Disorder	Mutation	Chromosome
IAHSP see infantile-onset ascending hereditary spastic paralysis
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 Pigmenti	P	Xq28
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 idic15	Inv dup	15q11-14
Isolated deafness see nonsyndromic deafness

J

Disorder	Mutation	Chromosome
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

K

Disorder	Mutation	Chromosome
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's syndrome see Klinefelter syndrome
Kniest dysplasia
Krabbe disease

L

Disorder	Mutation	Chromosome
Lacunar dementia see CADASIL
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
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

M

Disorder	Mutation	Chromosome
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 syndrome		15
Marker X syndrome see fragile X syndrome
Martin-Bell syndrome see fragile X syndrome
McCune-Albright syndrome		20 q13.2-13.3
McLeod syndrome		X
Mediterranean Anemia see beta thalassemia
Mediterranean fever, familial
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
Menkea syndrome see Menkes syndrome
Menkes syndrome
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 - Menkes syndrome see Menkes syndrome
Microcephaly	P	1q31 (ASPM)
MMA see methylmalonic acidemia
MNK - Menkes syndrome see Menkes syndrome
monosomy X see Turner syndrome
Motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
Movement disorders
Mowat-Wilson syndrome
Mucoviscidosis see cystic fibrosis
Muenke syndrome
Multi-Infarct dementia see CADASIL
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

N

Disorder	Mutation	Chromosome
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 I		17q11.2
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
NF see Neurofibromatosis types I & II
Niemann-Pick see Niemann-Pick disease	NPA, NPB, NPC1, NPC2, 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

O

Disorder	Mutation	Chromosome
Ochronosis see alkaptonuria
Ochronotic arthritis see alkaptonuria
OI see osteogenesis imperfecta
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

P

Disorder	Mutation	Chromosome
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 1
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
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 disease
primary hemochromatosis see hemochromatosis
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
primary pulmonary hypertension
primary senile degenerative dementia see Alzheimer 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

R

Disorder	Mutation	Chromosome
Rb see retinoblastoma
Recklinghausen disease, nerve see neurofibromatosis 1
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

S

Disorder	Mutation	Chromosome
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 2
SCIDX1 see X-linked severe combined immunodeficiency
sclerosis tuberosa see tuberous sclerosis
SDAT see Alzheimer 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	D	22q
sickle cell anemia
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
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 syndrome
Steinert disease see myotonic dystrophy
Steinert myotonic dystrophy syndrome see myotonic dystrophy
Stickler syndrome
stroke see CADASIL
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

T

Disorder	Mutation	Chromosome
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
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
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 Tourette's Syndrome
Transmissible dementias see prion disease
Transmissible spongiform encephalopathies see prion disease
Treacher Collins syndrome		5q32-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

U

Disorder	Mutation	Chromosome
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

V

Disorder	Mutation	Chromosome
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	D	22q
VHL syndrome see von Hippel-Lindau disease
Vision impairment and blindness see Alstrom syndrome
Von Bogaert-Bertrand disease see Canavan disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease see hemochromatosis
von Recklinghausen disease see neurofibromatosis 1
VP see variegate porphyria
Vrolik disease see osteogenesis imperfecta

W

Disorder	Mutation	Chromosome
Waardenburg syndrome
WD - Wilson's disease see Wilson disease
Weissenbacher-Zweymüller syndrome
Wilson disease
Wilson's disease see Wilson disease
Wolff Periodic disease see Mediterranean fever, familial
WZS see Weissenbacher-Zweymüller syndrome

X

Disorder	Mutation	Chromosome
Xeroderma Pigmentosum	ERCC4	15
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 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
XXY syndrome see Klinefelter syndrome
XXY trisomy see Klinefelter syndrome
XYY karyotype see 47,XYY syndrome
XYY syndrome see 47,XYY syndrome

Y

Disorder	Mutation	Chromosome
YY syndrome see 47,XYY syndrome