List of genetic disorders

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

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

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-galactosidase A deficiency
see Fabry disease

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

Xq22.1

androgen insensitivity syndrome

Anemia

Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia

Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia

Anemia, splenic, familial
see Gaucher disease

Angelman syndrome

Angiokeratoma Corporis Diffusum
see Fabry's disease

Xq22.1

Angiokeratoma diffuse
see Fabry's disease

Angiomatosis retinae
see von Hippel-Lindau disease

ANH1
see X-linked sideroblastic anemia

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

Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome

Arthrochalasis multiplex congenita
see Ehlers-Danlos syndrome

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

22q

autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis

Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness

Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see Pendred syndrome

AxD
see Alexander disease

Ayerza syndrome
see primary pulmonary hypertension

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-Dub� syndrome

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

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 Phenylketonuria see phenylketonuria
Cleft lip and palate see Stickler syndrome
Cloverleaf skull with thanatophoric dwarfism see Thanatophoric dysplasia
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 see Charcot-Marie-Tooth disease
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