List of genetic disorders

The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.

Most common disorders

Duchenne muscular dystrophy

• 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

A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease

Disorder	Chromosome	Mutation
22q11.2 deletion syndrome	22q	D
Angelman syndrome	15	DCP
Canavan disease	17p
Charcot–Marie–Tooth disease	17
Color blindness	X	P
Cri du chat	5	D
Cystic fibrosis	7q	P
Down syndrome	21	C
Duchenne muscular dystrophy	Xp	D
Familial hypercholesterolemia	19	P
Haemochromatosis	6	P
Haemophilia	X	P
Klinefelter syndrome	X	C
Neurofibromatosis	17q/22q/?
Phenylketonuria	12q	P
Polycystic kidney disease	16 (PKD1) or 4 (PKD2)	P
Prader–Willi syndrome	15	DCP
Sickle cell disease	11p	P
Spinal muscular atrophy	5q	DP
Tay–Sachs disease	15	P
Turner syndrome	X	C

Full genetic disorders list

CDKL5 deficiency disorder

Disorder	Chromosome or gene	Type	Reference	Prevalence
1p36 deletion syndrome	1p36	D		1:7500
18p deletion syndrome	18p	D
21-hydroxylase deficiency	6p21.3	recessive
Alpha 1-antitrypsin deficiency	14q32	co-dominant,		1:2500-5000
AAA syndrome (achalasia–addisonianism–alacrima syndrome)	AAAS	recessive
Aarskog–Scott syndrome	FGD1
ABCD syndrome	EDNRB	recessive
Aceruloplasminemia	CP (3p26.3)	recessive
Acheiropodia	LMBR1	recessive
Achondrogenesis type II	COL2A1 (12q13.11)	dominant
achondroplasia	FGFR3 (4p16.3)	dominant
Acute intermittent porphyria	HMBS	dominant and recessive forms
adenylosuccinate lyase deficiency	ADSL	recessive
Adrenoleukodystrophy	ABCD1 (X)	recessive
Alagille syndrome	JAG1, NOTCH2	dominant
ADULT syndrome	TP63	dominant
Aicardi–Goutières syndrome	TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1
Albinism
Alexander disease	GFAP
alkaptonuria	HGD
Alport syndrome	10q26.13 COL4A3, COL4A4, and COL4A5			1:5000-10000
Alternating hemiplegia of childhood	ATP1A3			1:1,000,000
Amyotrophic lateral sclerosis – Frontotemporal dementia	C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT
Alström syndrome	ALMS1
Alzheimer's disease	PSEN1, PSEN2, APP, APOEε4
Amelogenesis imperfecta
Aminolevulinic acid dehydratase deficiency porphyria	ALAD
Androgen insensitivity syndrome
Angelman syndrome	UBE3A
Apert syndrome	FGFR2
Arthrogryposis–renal dysfunction–cholestasis syndrome	VPS33B
Ataxia telangiectasia	ATM
Axenfeld syndrome	PITX2, FOXO1A, FOXC1, PAX6
Beare–Stevenson cutis gyrata syndrome	10q26, FGFR2
Beckwith–Wiedemann syndrome	IGF-2, CDKN1C, H19, KCNQ1OT1
Benjamin syndrome
biotinidase deficiency	BTD
Björnstad syndrome	BCS1L
Bloom syndrome	15q26.1
Birt–Hogg–Dubé syndrome	17 FLCN
Brody myopathy	ATP2A1
Brunner syndrome	MAOA
CADASIL syndrome	NOTCH3	P
CARASIL syndrome	HTRA1
Chronic granulomatous disorder
Campomelic dysplasia	X 17q24.3–q25.1	C
Canavan disease	ASPA
Carpenter Syndrome	RAB23
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK)	SNAP29
Cystic fibrosis	CFTR (7q31.2)	D or S
Charcot–Marie–Tooth disease	PMP22, MFN2
CHARGE syndrome	CHD7
Chédiak–Higashi syndrome	LYST	recessive
Cleidocranial dysostosis	RUNX2
Cockayne syndrome	ERCC6, ERCC8
Coffin–Lowry syndrome	X RPS6KA3
Cohen syndrome	COH1
collagenopathy, types II and XI	COL11A1, COL11A2, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA)	NTRK1
Congenital Muscular Dystrophy	multiple	dominant or recessive
Cornelia de Lange syndrome (CDLS)	HDAC8, SMC1A, NIPBL, SMA3, RAD21
Cowden syndrome	PTEN
CPO deficiency (coproporphyria)	CPOX
Cranio-lenticulo-sutural dysplasia	14q13–q21
Cri du chat	5p	D
Crohn's disease	16q12	P
Crouzon syndrome	FGFR2, FGFR3
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans)	FGFR3
Darier's disease	ATP2A2
Dent's disease (Genetic hypercalciuria)	Xp11.22 CLCN5, OCRL
Denys–Drash syndrome	WT1
De Grouchy syndrome	18q	D
Down Syndrome	21	C
Di George's syndrome	22q11.2	D
Distal hereditary motor neuropathies, multiple types	HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1
Distal muscular dystrophy	Dysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknown	Dominant or recessive
Duchenne muscular dystrophy	Dystrophin	X-linked recessive
Dravet syndrome	SCN1A, SCN2A
Edwards Syndrome	18	trisomy
Ehlers–Danlos syndrome	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE	dominant
Emery–Dreifuss syndrome	EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Epidermolysis bullosa	KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1	dominant or recessive		11.08:1,000,000
Erythropoietic protoporphyria	FECH
Fanconi anemia (FA)	FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF
Fabry disease	GLA (Xq22.1)	P
Factor V Leiden thrombophilia
Fatal familial insomnia	PRNP	dominant
Familial adenomatous polyposis	APC
Familial dysautonomia	IKBKAP
Familial Creutzfeld–Jakob Disease	PRNP	dominant
Feingold syndrome	MYCN
FG syndrome	MED12
Fragile X syndrome	FMR1	T
Friedreich's ataxia	FXN	T
G6PD deficiency
Galactosemia	GALT, GALK1, GALE
Gaucher disease	GBA (1)
Gerstmann–Sträussler–Scheinker syndrome	PRNP	dominant
Gillespie syndrome	PAX6
Glutaric aciduria, type I and type 2	GCDH, ETFA, ETFB, ETFDH	recessive
GRACILE syndrome	BCS1L
Griscelli syndrome	MYO5A, RAB27A, MLPH
Hailey–Hailey disease	ATP2C1 (3)
Harlequin type ichthyosis	ABCA12
Hemochromatosis, hereditary	HFE, HAMP, HFE2B, TFR2, TF, CP
Hemophilia	FVIII
Hepatoerythropoietic porphyria	UROD
Hereditary coproporphyria	3q12	P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)	ENG, ACVRL1, MADH4
Hereditary inclusion body myopathy	GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostoses	EXT1, EXT2, EXT3
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis)
Hermansky–Pudlak syndrome	HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1
Hereditary neuropathy with liability to pressure palsies (HNPP)	PMP22
Heterotaxy	NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
Homocystinuria	CBS (gene)	recessive
Huntington's disease	HD	T
Hunter syndrome	IDS
Hurler syndrome	IDUA
Hutchinson–Gilford progeria syndrome	LMNA
Hyperlysinemia	AASS	recessive
Hyperoxaluria, primary	AGXT, GRHPR, DHDPSL
Hyperphenylalaninemia	12q
Hypoalphalipoproteinemia (Tangier disease)	ABCA1
Hypochondrogenesis	COL2A1
Hypochondroplasia	FGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)	20q11.2
Incontinentia pigmenti	IKBKG (Xq28)	P
Ischiopatellar dysplasia	TBX4	dominant
Isodicentric 15	15q11–14	Inv dup
Jackson–Weiss syndrome	FGFR2
Joubert syndrome	INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile primary lateral sclerosis (JPLS)	ALS2
Keloid disorder
Kniest dysplasia	COL2A1
Kosaki overgrowth syndrome	PDGFRB
Krabbe disease	GALC
Kufor–Rakeb syndrome	ATP13A2
LCAT deficiency	LCAT
Lesch–Nyhan syndrome	HPRT (X)
Li–Fraumeni syndrome	TP53
Limb-Girdle Muscular Dystrophy	Multiple	dominant or recessive
Lynch syndrome	MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
lipoprotein lipase deficiency		recessive
Malignant hyperthermia	RYR1 (19q13.2)	dominant
Maple syrup urine disease	BCKDHA, BCKDHB, DBT, DLD	recessive
Marfan syndrome	15	dominant
Maroteaux–Lamy syndrome	ARSB	recessive
McCune–Albright syndrome	20 q13.2–13.3
McLeod syndrome	XK (X)
MEDNIK syndrome	AP1S1	D
Mediterranean fever, familial	MEFV
Menkes disease	ATP7A (Xq21.1)
Methemoglobinemia
Methylmalonic acidemia	MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT	recessive
Micro syndrome	RAB3GAP (2q21.3)
Microcephaly	ASPM (1q31)	P
Morquio syndrome	GALNS, GLB1
Mowat–Wilson syndrome	ZEB2 (2)
Muenke syndrome	FGFR3
Multiple endocrine neoplasia type 1 (Wermer's syndrome)	MEN1	dominant
Multiple endocrine neoplasia type 2	RET	dominant
Muscular dystrophy	multiple	AR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy	MSTN
myotonic dystrophy	DMPK, CNBP	dominant or T
Natowicz syndrome	HYAL1
Neurofibromatosis type I	17q11.2
Neurofibromatosis type II
Niemann–Pick disease	SMPD1, NPA, NPB, NPC1, NPC2
Nonketotic hyperglycinemia	GLDC, AMT, GCSH	recessive
Nonsyndromic deafness
Noonan syndrome	PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL	dominant
Norman–Roberts syndrome	RELN	recessive
Ogden syndrome	X	P
Omenn syndrome	RAG1, RAG2	recessive
Osteogenesis imperfecta	COL1A1, COL1A2, IFITM5	dominant
Pantothenate kinase-associated neurodegeneration	PANK2 (20p13–p12.3)	recessive
Patau syndrome (Trisomy 13)	13	trisomy
PCC deficiency (propionic acidemia)	PC	recessive
Porphyria cutanea tarda (PCT)	UROD	dominant
Pendred syndrome	PDS (7)	recessive
Peutz–Jeghers syndrome	STK11	dominant
Pfeiffer syndrome	FGFR1, FGFR2	dominant
Phenylketonuria	PAH	recessive
Pipecolic acidemia	AASDHPPT	recessive
Pitt–Hopkins syndrome	TCF4 (18)	dominant, de novo
Polycystic kidney disease	PKD1 (16) or PKD2 (4)	P
Polycystic ovary syndrome (PCOS)
Porphyria
Prader–Willi syndrome	15	paternal imprinting
Primary ciliary dyskinesia (PCD)	DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50	recessive
Primary pulmonary hypertension
Protein C deficiency	PROC	dominant
Protein S deficiency	PROS1	dominant
Pseudo-Gaucher disease
Pseudoxanthoma elasticum	ABCC6	recessive
Retinitis pigmentosa	RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX	dominant or recessive
Rett syndrome	MECP2	dominant, often de novo
Roberts syndrome	ESCO2	recessive
Rubinstein–Taybi syndrome (RSTS)	CREBBP	dominant
Sandhoff disease	HEXB	recessive
Sanfilippo syndrome	SGSH, NAGLU, HGSNAT, GNS
Schwartz–Jampel syndrome	HSPG2	recessive
Sjogren-Larsson syndrome	ALDH3A2	Autosomal-recessive	[1], [2],[3]
Spondyloepiphyseal dysplasia congenita (SED)	COL2A1	dominant
Shprintzen–Goldberg syndrome	FBN1	dominant
Sickle cell anemia	11p15	P
Siderius X-linked mental retardation syndrome	PHF8	X-Linked Recessive
Sideroblastic anemia	ABCB7, SLC25A38, GLRX5	recessive
Sly syndrome	GUSB	recessive
Smith–Lemli–Opitz syndrome	DHCR7	recessive
Smith–Magenis syndrome	17p11.2	dominant
Snyder–Robinson syndrome	Xp21.3-p22.12	recessive
Spinal muscular atrophy	5q
Spinocerebellar ataxia (types 1–29)	ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14	dominant, recessive or T
SSB syndrome (SADDAN)	FGFR3	dominant
Stargardt disease (macular degeneration)	ABCA4, CNGB3, ELOVL4, PROM1	dominant or recessive
Stickler syndrome (multiple forms)	COL11A1, COL11A2, COL2A1, COL9A1	dominant or recessive
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)	COL2A1	dominant
Tay–Sachs disease	HEXA (15)	recessive
Tetrahydrobiopterin deficiency	GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR	recessive
Thanatophoric dysplasia	FGFR3	dominant
Treacher Collins syndrome	5q32–q33.1 (TCOF1, POLR1C, or POLR1D)	dominant
Tuberous sclerosis complex (TSC)	TSC1, TSC2	dominant
Turner syndrome	X	monosomy
Usher syndrome	MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1	recessive
Variegate porphyria	PPOX	dominant
von Hippel–Lindau disease	VHL	dominant
Waardenburg syndrome	PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10	dominant
Weissenbacher–Zweymüller syndrome	COL11A2	recessive
Williams syndrome	7q11.23	dominant		1:10,000
Wilson disease	ATP7B	recessive
Woodhouse–Sakati syndrome	C2ORF37 (2q22.3–q35)	recessive
Wolf–Hirschhorn syndrome	4p16.3	dominant, often de novo
Xeroderma pigmentosum	15 ERCC4	recessive
X-linked intellectual disability and macroorchidism (fragile X syndrome)	X
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy)	X
Xp11.2 duplication syndrome	Xp11.2	D		1:1000000
X-linked severe combined immunodeficiency (X-SCID)	X
X-linked sideroblastic anemia (XLSA)	ALAS2 (X)
47,XXX (triple X syndrome)	X	C
XXXX syndrome (48, XXXX)	X
XXXXX syndrome (49, XXXXX)	X
XYY syndrome (47,XYY)	X
Zellweger syndrome	PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26	recessive

Further reading

• "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). genome.gov. Retrieved 15 November 2017.
• "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. NIH.gov. Retrieved 15 November 2017.