List of genetic disorders

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

Most common disorders

• 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 Chromosome abnormality)
• T – Trinucleotide repeat disorders: gene is extended in length

Disorder	Mutation	Chromosome
22q11.2 deletion syndrome	D	22q
Angelman syndrome	DCP	15
Canavan disease		17p
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
Haemochromatosis	P	6
Haemophilia	P	X
Klinefelter syndrome	C	X
Neurofibromatosis		17q/22q/?
Phenylketonuria	P	12q
Polycystic kidney disease	P	16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome	DC	15
Sickle-cell disease	P	11p
Spinal muscular atrophy	DP	5q
Tay–Sachs disease	P	15
Turner syndrome	C	X

Full list

Sortable table

Disorder name	Mutation type	Chromosome
1p36 deletion syndrome	D	1p36
18p deletion syndrome	D	18p
21-hydroxylase deficiency		6p21.3
47,XXX see triple X syndrome	C	X
47,XXY see Klinefelter syndrome	C	X
5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency
AAT see alpha 1-antitrypsin deficiency		14q32
aceruloplasminemia		3p26.3
Achondrogenesis type II		12q13.11
achondroplasia	substitution	4p16.3
Acrocephaly see Apert syndrome		10q26.13
acute intermittent porphyria
adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Alagille syndrome
Albinism
Alexander disease
alkaptonuria
ALS see amyotrophic lateral sclerosis
Alström syndrome
Alzheimer's disease
Amelogenesis imperfecta
androgen insensitivity syndrome
Anemia
Angelman syndrome
ataxia telangiectasia
B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease
Beare-Stevenson cutis gyrata syndrome		10q26
Benjamin syndrome
biotinidase deficiency
Birth Defects
Bloom syndrome		15q26.1
Birt–Hogg–Dubé syndrome		17
Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome
CADASIL syndrome	P	3
CGD Chronic granulomatous disorder
Campomelic dysplasia	C	17q24.3-q25.1
Canavan disease
Cancer
Caylor cardiofacial syndrome see 22q11.2 deletion syndrome	D	22q
CF see cystic fibrosis	D (most common); or substitution	CFTR (7q31.2)
Charcot–Marie–Tooth disease
CHARGE syndrome
Chondrodystrophy with dysplasia see otospondylomegaepiphyseal dysplasia
Cockayne syndrome
Coffin–Lowry syndrome
collagenopathy, types II and XI
Cowden syndrome
CPO deficiency see hereditary coproporphyria
Cri du chat	D	5p
Crohn's disease,	P	16q12
Crouzon syndrome		FGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
Genetic hypercalciuria see Dent's disease		Xp11.22
de Grouchy syndrome 1 see De Grouchy syndrome	D	18p
Di George's syndrome	D	22q
distal hereditary motor neuropathy
Ehlers–Danlos syndrome
Erythroblastic anemia see beta-thalassemia
FA see fanconi anemia
Fabry disease	P	Xq22.1
factor V Leiden thrombophilia
familial adenomatous polyposis
familial dysautonomia
FG syndrome
Friedreich's ataxia
G6PD deficiency
galactosemia
Gaucher disease
Glioma, retinal see retinoblastoma
Glycine encephalopathy see Nonketotic hyperglycinemia
Haemochromatosis see hemochromatosis
Harlequin type ichthyosis
hemophilia
hepatoerythropoietic porphyria
Hereditary coproporphyria	P	3q12
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy see skeletal muscle regeneration
Hereditary multiple exostoses
Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia see Friedreich's ataxia
HNPP see hereditary neuropathy with liability to pressure palsies
homocystinuria
Huntington's disease	T	4p16.3
Hutchinson–Gilford progeria syndrome see progeria
hyperoxaluria, primary
hyperphenylalaninemia
Hypochondrogenesis
Hypochondroplasia		4p16.3
ICF syndrome see Immunodeficiency, centromere instability and facial anomalies syndrome		20q11.2
Incontinentia pigmenti	P	Xq28
infantile-onset ascending hereditary spastic paralysis
Isodicentric 15 see isodicentric 15	Inv dup	15q11-14
Jackson–Weiss syndrome
Joubert syndrome
JPLS see Juvenile Primary Lateral Sclerosis		ALS2
Keloid disorder
Kniest dysplasia
Krabbe disease
Lesch-Nyhan syndrome
Li-Fraumeni syndrome
lipoprotein lipase deficiency, familial
Marfan syndrome		15
McCune–Albright syndrome		20 q13.2-13.3
McLeod syndrome		X
MEDNIK	D	AP1S1
Mediterranean fever, familial
Menkes disease
Mental retardation with osteocartilaginous abnormalities see Coffin–Lowry syndrome
Methemoglobinemia
methylmalonic acidemia
Micro syndrome		2q21.3
Microcephaly	P	1q31 (ASPM)
Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Muenke syndrome
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
myotonic dystrophy
Neurofibromatosis type I		17q11.2
Neurofibromatosis type II
Niemann-Pick see Niemann–Pick disease	NPA, NPB, NPC1, NPC2, Sphingomyelin phosphodiesterase 1	SMPD1
Nonketotic hyperglycinemia see Glycine encephalopathy
nonsyndromic deafness
Noonan syndrome
Ogden syndrome	P	X
osteogenesis imperfecta
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PCC deficiency see propionic acidemia
PCT see porphyria cutanea tarda
Pendred syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
phenylketonuria
Polycystic kidney disease	P	16 (PKD1) or 4 (PKD2)
porphyria
Prader-Willi syndrome
Primary ciliary dyskinesia (PCD)
primary pulmonary hypertension
protein C deficiency
protein S deficiency
protoporphyria see erythropoietic protoporphyria
Prion disease
pseudo-Gaucher disease
pseudoxanthoma elasticum
Rett syndrome
RSTS see Rubinstein-Taybi syndrome
Schwartz–Jampel syndrome
SED congenita see spondyloepiphyseal dysplasia congenita
sickle cell anemia	P	11p15
Siderius X-linked mental retardation syndrome caused by mutations in the PHF8 gene	PD	Xp11.22
Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
spinal muscular atrophy
spinocerebellar ataxia
SSB syndrome see SADDAN
Stickler syndrome
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Tay-Sachs disease
tetrahydrobiopterin deficiency
thanatophoric dysplasia
Treacher Collins syndrome		5q32-q33.1
Trisomy 21 see Down syndrome
Tuberous Sclerosis Complex (TSC) see Tuberous sclerosis		TSC1, TSC2
Turner's syndrome see Turner syndrome		X
Usher syndrome
variegate porphyria
von Hippel-Lindau disease
Waardenburg syndrome
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Wolf–Hirschhorn syndrome	D	4p
Xeroderma pigmentosum	ERCC4	15
X-linked mental retardation and macroorchidism see fragile X syndrome		X
X-linked spinal-bulbar muscle atrophy see spinal and bulbar muscular atrophy		X
X-SCID see X-linked severe combined immunodeficiency		X
XLSA see X-linked sideroblastic anemia		X
XXXX syndrome see 48, XXXX		X
XXXXX syndrome see 49, XXXXX		X
XYY syndrome see 47,XYY syndrome		X

See also

• List of cutaneous conditions