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
|
[1]
|
|
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
|
[2]
|
|
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
|
[3]
|
|
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
|
[4]
|
|
Duchenne muscular dystrophy
|
Dystrophin
|
X-linked recessive
|
[5]
|
|
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
|
[6][7]
|
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) |
AP4M1, AP4S1, AP4B1, AP4E1
|
autosomal dominant, autosomal recessive or X-linked recessive
|
|
|
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
|
[8]
|
|
Huntington's disease |
chromosome 4 HTT gene |
autosomal dominant |
[ 1:10,000 USA ]
|
|
|
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
|
[9][10]
|
|
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
|
[11][12]
|
|
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
|
[13]
|
|
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
|
[14]
|
|
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
|
[15]
|
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
|
|
|