| Disorder
|
Chromosome or gene
|
Type
|
Reference
|
Prevalence
|
| 1p36 deletion syndrome
|
1
|
D
|
|
1:7,500
|
| 1q21.1 deletion syndrome
|
1q21.1
|
D
|
|
|
| 2q37 deletion syndrome
|
2q37
|
D
|
|
|
| 5q deletion syndrome
|
5q
|
D
|
|
|
| 5,10-methenyltetrahydrofolate synthetase deficiency
|
MTHFS
|
|
[2] |
|
| 17q12 microdeletion syndrome
|
17q12
|
|
[3][4] |
1:14,000-62,500
|
| 17q12 microduplication syndrome
|
17q12
|
|
[5] |
|
| 18p deletion syndrome
|
18p
|
D
|
|
1:50,000
|
| 21-hydroxylase deficiency
|
6p21.3
|
recessive
|
|
1:15,000
|
| Alpha 1-antitrypsin deficiency
|
14q32
|
co-dominant,
|
|
1:2,500-5,000
|
| AAA syndrome (achalasia–addisonianism–alacrima syndrome)
|
AAAS
|
recessive
|
[6] |
1:1,000,000
|
| Aarskog–Scott syndrome
|
FGD1
|
X-linked recessive
|
|
1:25,000
|
| ABCD syndrome
|
EDNRB
|
recessive
|
|
1:18,000-20,000
|
| Absence deformity of leg-cataract syndrome
|
|
|
|
|
| Aceruloplasminemia
|
CP (3p26.3)
|
recessive
|
|
1:2,000,000
|
| Acheiropodia
|
LMBR1
|
recessive
|
|
|
| Achondrogenesis type II
|
COL2A1 (12q13.11)
|
dominant
|
|
1:40,000-60,000
|
| achondroplasia |
FGFR3 (4p16.3) |
dominant
|
|
1:27,500
|
| Acute intermittent porphyria |
HMBS |
dominant and recessive forms
|
|
1:500-50,000
|
| Adenylosuccinate lyase deficiency |
ADSL
|
recessive
|
|
|
| Adrenoleukodystrophy |
ABCD1 (X) |
recessive
|
|
1:17,000
|
| Alagille syndrome |
JAG1, NOTCH2
|
dominant
|
[7] |
1:30,000-50,000
|
| ADULT syndrome
|
TP63
|
dominant
|
|
|
| Aicardi–Goutières syndrome |
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1
|
|
|
1:19,500,000
|
| Albinism |
|
|
|
1:18,000-20,000
|
| Alexander disease |
GFAP |
|
|
1:15,600,000
|
| Alfi’s syndrome
|
9p
|
monosomy
|
|
1:50,000
|
| alkaptonuria |
HGD |
|
|
1:250,000-1,000,000
|
| Alport syndrome |
10q26.13 COL4A3, COL4A4, and COL4A5 |
|
|
1:5,000-10,000
|
| Alternating hemiplegia of childhood
|
ATP1A3
|
|
|
1:1,000,000
|
| Aortic arch anomaly – peculiar facies – intellectual disability
|
|
dominant
|
|
|
| Amish lethal microcephaly
|
SLC25A19
|
recessive
|
|
|
| Amyotrophic lateral sclerosis – Frontotemporal dementia |
C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT
|
|
|
1:100,000
|
| Angel-shaped phalango-epiphyseal dysplasia
|
GDF5
|
dominant
|
|
|
| Alström syndrome |
ALMS1 |
|
|
1:8,600,000
|
| Alzheimer’s disease |
PSEN1, PSEN2, APP, APOEε4
|
|
|
1:177
|
| Amelogenesis imperfecta |
|
|
|
1:14,000
|
| Aminolevulinic acid dehydratase deficiency porphyria
|
ALAD
|
|
|
1:780,000,000
|
| Androgen insensitivity syndrome |
|
|
|
1:20,000-50,000
|
| Angelman syndrome |
UBE3A |
|
|
1:12,000-20,000
|
| Aphalangy-syndactyly-microcephaly syndrome
|
|
dominant
|
|
|
| Apert syndrome
|
FGFR2
|
|
|
1:65,000-80,000
|
| Arthrogryposis–renal dysfunction–cholestasis syndrome |
VPS33B
|
|
|
1:78,000,000
|
| Ataxia telangiectasia |
ATM |
|
|
1:40,000-1,000,000
|
| Axenfeld syndrome
|
PITX2, FOXO1A, FOXC1, PAX6
|
|
|
1:200,000
|
| Bainbridge–Ropers syndrome
|
ASXL3
|
de novo
|
|
|
| Beare–Stevenson cutis gyrata syndrome |
10q26, FGFR2 |
|
|
1:390,000,000
|
| Beckwith–Wiedemann syndrome
|
IGF-2, CDKN1C, H19, KCNQ1OT1
|
|
|
1:15,000
|
| Benjamin syndrome |
|
|
|
1:20,000,000
|
| biotinidase deficiency |
BTD |
|
|
1:110,000,000
|
| Björnstad syndrome
|
BCS1L
|
|
|
1:260,000,000
|
| Blepharophimosis intellectual disability syndromes
|
|
|
|
|
| Bloom syndrome |
15q26.1 |
|
|
1:480,000
|
| Birt–Hogg–Dubé syndrome |
17 FLCN |
|
|
1:19,500,000
|
| Brody myopathy
|
ATP2A1
|
|
|
1:10,000,000
|
| Brunner syndrome
|
MAOA
|
|
|
1:500,000,000
|
| CADASIL syndrome |
NOTCH3 |
P
|
|
1:156,000,000
|
| Cat eye syndrome
|
22
|
|
|
1:74,000
|
| CRASIL syndrome
|
HTRA1
|
|
|
1:156,000,000
|
| Chronic granulomatous disorder |
|
|
|
1:200,000
|
| Campomelic dysplasia |
X 17q24.3–q25.1 |
C
|
|
1:40,000-200,000
|
| Camptodactyly-taurinuria syndrome
|
|
dominant
|
|
|
| Canavan disease |
ASPA |
|
|
1:6,400-13,500
|
| Carpenter Syndrome
|
RAB23
|
|
|
1:1,000,000
|
| CDKL5 deficiency disorder
|
CDKL5
|
|
[8] |
1:40,000-60,000[8] |
| Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) |
SNAP29 |
|
|
<1:1,000,000[9] |
| Cleft palate short stature vertebral anomalies syndrome
|
|
|
|
|
| Combined malonic and methylmalonic aciduria (CMAMMA)
|
ACSF3
|
recessive
|
[10][11] |
1:30,000[10] |
| Combined malonic and methylmalonic aciduria (CMAMMA)
|
MLYCD
|
recessive
|
|
|
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
|
|
recessive
|
|
|
| Cystic fibrosis |
CFTR (7q31.2) |
D or S
|
[12] |
1:100,000
|
| Charcot–Marie–Tooth disease |
PMP22, MFN2
|
|
|
1:2,500
|
| CHARGE syndrome |
CHD7 |
|
|
1:8,500-10,000
|
| Chédiak–Higashi syndrome |
LYST |
recessive
|
|
1:39,000,000
|
| Chondrodysplasia, Grebe type
|
GDF5
|
autosomal recessive
|
[13] |
|
| Cleidocranial dysostosis
|
RUNX2
|
|
|
1:7,800
|
| Cockayne syndrome |
ERCC6, ERCC8
|
|
|
1:2,600-3,900
|
| Coffin–Lowry syndrome |
X RPS6KA3
|
|
|
1:40,000-50,000
|
| Cohen syndrome |
COH1
|
|
|
1:7,800,000
|
| collagenopathy, types II and XI |
COL11A1, COL11A2, COL2A1
|
|
|
|
| Congenital insensitivity to pain with anhidrosis (CIPA)
|
NTRK1
|
|
|
|
| Congenital Muscular Dystrophy
|
multiple
|
dominant or recessive
|
[14] |
|
| Corneal dystrophy-perceptive deafness syndrome
|
SLC4A11
|
autosomal recessive
|
[15] |
|
| Cornelia de Lange syndrome (CDLS)
|
HDAC8, SMC1A, NIPBL, SMA3, RAD21
|
|
|
1:10,000-30,000
|
| Cowden syndrome |
PTEN
|
|
|
1:200,000
|
| CPO deficiency (coproporphyria) |
CPOX
|
|
|
|
| Cranio-lenticulo-sutural dysplasia |
14q13–q21
|
|
|
|
| Cri du chat |
5p15.2 |
D
|
[16][17] |
1:37,000-50,000
|
| Crohn’s disease |
16q12 |
P
|
|
|
| Crouzon syndrome |
FGFR2, FGFR3 |
|
|
1.6:100,000
|
| Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) |
FGFR3
|
|
|
1:1,000,000
|
| Currarino syndrome
|
HLXB9
|
dominant
|
|
1:100,000
|
| Darier’s disease
|
ATP2A2
|
|
|
1:30,000-100,000
|
| Dent’s disease (Genetic hypercalciuria) |
Xp11.22 CLCN5, OCRL |
|
|
|
| Denys–Drash syndrome
|
WT1
|
|
|
|
| De Grouchy syndrome |
18q |
D
|
|
|
| Dolichonychia
|
|
|
|
|
| Down Syndrome
|
21
|
C
|
|
1:1,000-1,100
1:1,200 (U.S.)
|
| DiGeorge syndrome |
22q11.2 |
D
|
|
1:4,000
|
| 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
|
[18] |
|
| Duchenne muscular dystrophy
|
Dystrophin
|
X-linked recessive
|
[19] |
|
| Dravet syndrome |
SCN1A, SCN2A |
|
|
1:20,000-40,000
|
| Ectrodactyly-polydactyly syndrome
|
|
|
|
|
| Edwards Syndrome
|
18
|
trisomy
|
|
1:5,000
|
| Ehlers–Danlos syndrome |
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE
|
dominant
|
|
1:5,000
|
| Emanuel syndrome
|
11, 22
|
partial trisomy
|
|
|
| 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
|
[20][21] |
11.08:1,000,000
|
| Erythropoietic protoporphyria
|
FECH
|
|
|
1:75,000-200,000
|
| Fanconi anemia (FA)
|
FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF
|
|
|
1:130,000
|
| Fabry disease |
GLA (Xq22.1) |
P
|
|
1:117,000-476,000
|
| Factor V Leiden thrombophilia |
|
|
|
|
| Fatal familial insomnia
|
PRNP
|
dominant
|
|
|
| Familial adenomatous polyposis |
APC |
|
|
1:10,000-15,000
|
| Familial dysautonomia |
IKBKAP
|
|
|
|
| Familial Creutzfeld–Jakob Disease
|
PRNP
|
dominant
|
|
|
| Familial episodic pain syndrome
|
TRPA1, SCN10A, SCN11A
|
dominant
|
|
|
| Familial thoracic aortic aneurysm and aortic dissection
|
FOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11
|
dominant
|
|
|
| Feingold syndrome
|
MYCN
|
|
|
|
| FG syndrome |
MED12
|
|
|
|
| FBXW7 neurodevelopmental syndrome
|
FBXW7
|
|
|
|
| Fibular aplasia-ectrodactyly syndrome
|
|
dominant
|
|
|
| Fine-Lubinsky syndrome
|
MAF
|
recessive
|
|
|
| Fragile X syndrome
|
FMR1
|
T
|
|
1:4,000 males
1:8,000 females
|
| Friedreich’s ataxia |
FXN |
T
|
|
1:50,000 (U.S.)
|
| G6PD deficiency |
|
|
|
|
| Galactosemia |
GALT, GALK1, GALE |
|
|
|
| Gaucher disease |
GBA (1) |
|
|
1:20,000
|
| Gerstmann–Sträussler–Scheinker syndrome
|
PRNP
|
dominant
|
|
|
| Gillespie syndrome
|
PAX6
|
|
|
|
| Glutaric aciduria, type I and type 2
|
GCDH, ETFA, ETFB, ETFDH
|
recessive
|
|
|
| GRACILE syndrome
|
BCS1L
|
|
|
|
| GRIN2B-related neurodevelopmental disorder
|
GRIN2B
|
|
|
|
| Griscelli syndrome |
MYO5A, RAB27A, MLPH
|
|
|
|
| Gustavson syndrome
|
|
|
|
|
| Hailey–Hailey disease
|
ATP2C1 (3)
|
|
|
|
| Harlequin type ichthyosis |
ABCA12 |
|
|
|
| Hemochromatosis type 1 |
HFE (chromosome 6) |
recessive |
. |
1:200 (Northern Europe), 1:300 (Northern America)
|
| Hemochromatosis type 2A |
HJV (or HFE2A) (chromosome 1) |
recessive
|
|
|
| Hemochromatosis type 2B |
HAMP (or HFE2B) (chromosome 19) |
recessive
|
|
|
| Haemochromatosis type 3 |
TFR2 (or HFE3) (chromosome 7) |
recessive
|
|
|
| Hemochromatosis type 4 |
SLC40A1 (or HFE4) (chromosome 2) |
dominant
|
|
|
| Hemochromatosis type 5 |
FTH1 (chromosome 11) |
dominant
|
|
|
| Hemophilia |
FVIII
|
|
|
1:7,500 males (hemophilia A)
1:40,000 males (hemophilia B)
|
| Hepatoerythropoietic porphyria |
UROD
|
|
|
|
| Hereditary coproporphyria |
3q12 |
P
|
|
|
| Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) |
ENG, ACVRL1, MADH4 |
|
|
1:5,000 [22] |
| Hereditary inclusion body myopathy |
GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
|
|
|
|
| Hereditary multiple exostoses |
EXT1, EXT2, EXT3 |
|
|
1:50,000
|
| Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) |
AP4M1, AP4S1, AP4B1, AP4E1
|
autosomal dominant, autosomal recessive or X-linked recessive
|
|
2-6:100,000
|
| Hermansky–Pudlak syndrome |
HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1
|
|
|
1:500,000
|
| Hereditary neuropathy with liability to pressure palsies (HNPP) |
PMP22 |
|
|
|
| Heterotaxy
|
NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
|
|
|
|
| Homocystinuria |
CBS (gene)
|
recessive
|
[23] |
|
| Huntington’s disease
|
chromosome 4 HTT gene
|
autosomal dominant
|
|
1:10,000 in US
|
| Hunter syndrome
|
IDS
|
|
|
1:100,000-150,000 males
|
| Hurler syndrome
|
IDUA
|
|
|
1:100,000
|
| Hutchinson–Gilford progeria syndrome |
LMNA
|
|
|
1:18,000,000
|
| 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
|
|
|
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
|
MED17
|
recessive
|
|
|
| Ischiopatellar dysplasia |
TBX4 |
dominant
|
|
|
| Isodicentric 15 |
15q11–14 |
Inv dup
|
|
1:30,000 [24] |
| PRICKLE1-related progressive myoclonus epilepsy with ataxia
|
PRICKLE1
|
dominant or recessive
|
|
|
| Jackson–Weiss syndrome |
FGFR2 |
|
|
|
| Jacobsen syndrome
|
11
|
|
|
1:100,000
|
| Joubert syndrome |
INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
|
|
|
|
| Juvenile-onset dystonia
|
ACTB, IMPDH2
|
dominant
|
|
|
| Juvenile primary lateral sclerosis (JPLS) |
ALS2 |
|
|
|
| Keloid disorder |
|
|
|
|
| KIF1A-Associated Neurological Disorder
|
KIF1A (2q37.3)
|
Dominant Negative
|
|
|
| Kleefstra syndrome
|
9q34
|
D
|
|
|
| Kniest dysplasia |
COL2A1 |
|
|
1:1,000,000
|
| Kosaki overgrowth syndrome |
PDGFRB |
|
|
|
| Krabbe disease |
GALC |
|
|
1:100,000
|
| Kufor–Rakeb syndrome
|
ATP13A2
|
|
|
|
| LCAT deficiency
|
LCAT
|
|
|
|
| Lesch–Nyhan syndrome |
HPRT (X) |
|
|
1:380,000
|
| Li–Fraumeni syndrome |
TP53
|
|
|
|
| Limb-Girdle Muscular Dystrophy
|
Multiple
|
dominant or recessive
|
[25][26] |
1:14,500-123,000
|
| Lynch syndrome |
MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
|
|
|
1:279
|
| lipoprotein lipase deficiency |
|
recessive
|
|
1:1,000,000
|
| Malignant hyperthermia
|
RYR1 (19q13.2)
|
dominant
|
|
1:5,000-100,000
|
| Maple syrup urine disease
|
BCKDHA, BCKDHB, DBT, DLD
|
recessive
|
|
|
| Marfan syndrome |
15 |
dominant
|
|
1:5,000-10,000
|
| Maroteaux–Lamy syndrome
|
ARSB
|
recessive
|
|
1:43,261-1,505,160
|
| McCune–Albright syndrome |
20 q13.2–13.3 |
|
|
1:100,000-1,000,000
|
| McLeod syndrome |
XK (X) |
|
|
0.5-1:100,000
|
| MEDNIK syndrome |
AP1S1 |
D
|
[27][28] |
|
| Mediterranean fever, familial |
MEFV |
|
|
|
| Menkes disease |
ATP7A (Xq21.1) |
|
|
1:100,000-250,000
|
| Methemoglobinemia |
|
|
|
|
| Methylmalonic acidemia |
MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT
|
recessive
|
|
1:48,000
|
| Micro syndrome |
RAB3GAP (2q21.3) |
|
|
|
| Microcephaly |
ASPM (1q31) |
P
|
|
|
| Miller-Dieker syndrome
|
17p13.3
|
D
|
|
1:100,000
|
| Morquio syndrome |
GALNS, GLB1 |
|
|
1:200,000-300,000
|
| Mowat–Wilson syndrome |
ZEB2 (2) |
|
|
|
| Muenke syndrome |
FGFR3 |
|
|
1:30,000
|
| 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
|
|
1:8,000
|
| Natowicz syndrome
|
HYAL1 |
|
|
<1:1,000,000
|
|
| NEDAMSS NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES |
IRF2BPL(gene) |
14q24.3 |
|
|
| Neurofibromatosis type I |
17q11.2 |
|
|
|
| Neurofibromatosis type II |
NF2 (22q12.2) |
|
|
|
| Niemann–Pick disease |
SMPD1, NPA, NPB, NPC1, NPC2 |
|
|
1:250,000 (types A and B)
1:150,000 (type C)
|
| Nonketotic hyperglycinemia |
GLDC, AMT, GCSH
|
recessive
|
|
1:60,000
|
| Nonsyndromic deafness |
|
|
|
|
| Noonan syndrome |
PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL |
dominant
|
|
1:1,000
|
| Norman–Roberts syndrome
|
RELN
|
recessive
|
|
|
| Ogden syndrome
|
X
|
P
|
|
|
| Omenn syndrome
|
RAG1, RAG2
|
recessive
|
|
|
| Osteogenesis imperfecta |
COL1A1, COL1A2, IFITM5
|
dominant
|
|
1:15,000-20,000
|
| Ostravik-Lindemann-Solberg syndrome
|
2p15
|
autosomal recessive
|
[29] |
|
| Pantothenate kinase-associated neurodegeneration |
PANK2 (20p13–p12.3) |
recessive
|
|
1-3:1,000,000
|
| Patau syndrome (Trisomy 13) |
13 |
trisomy
|
|
|
| PCC deficiency (propionic acidemia) |
PC |
recessive
|
|
1:250,000
|
| Porphyria cutanea tarda (PCT) |
UROD |
dominant
|
|
1:10,000
|
| Pendred syndrome |
PDS (7) |
recessive
|
|
|
| Peutz–Jeghers syndrome |
STK11
|
dominant
|
|
1:25,000-300,000
|
| Pfeiffer syndrome |
FGFR1, FGFR2 |
dominant
|
|
1:100,000
|
| Phelan-McDermid syndrome
|
22q13
|
D
|
|
|
| Phenylketonuria |
PAH |
recessive
|
|
1:12,000
|
| Pipecolic acidemia
|
AASDHPPT
|
recessive
|
|
|
| Pitt–Hopkins syndrome
|
TCF4 (18)
|
dominant, de novo
|
|
1:11,000-41,000
|
| Polycystic kidney disease
|
PKD1 (16) or PKD2 (4)
|
P
|
|
|
| Polycystic ovary syndrome (PCOS) |
|
|
|
|
| Porphyria |
|
|
|
1-100:50,000
|
| Prader–Willi syndrome |
15 |
paternal imprinting
|
|
1:10,000-30,000
|
| Primary ciliary dyskinesia (PCD) |
DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50
|
recessive
|
|
1:32,000
|
| Primary pulmonary hypertension |
|
|
|
|
| Protein C deficiency |
PROC
|
dominant
|
[30] |
1:20,000
|
| Protein S deficiency |
PROS1
|
dominant
|
|
|
| Proximal 18q deletion syndrome
|
18q
|
D
|
|
|
| Pseudo-Gaucher disease |
|
|
|
|
| Pseudoxanthoma elasticum |
ABCC6
|
recessive
|
|
1:25,000
|
| 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
|
|
1:4,000
|
| Rett syndrome |
MECP2
|
dominant, often de novo
|
|
1:8,500 females
|
| Roberts syndrome
|
ESCO2
|
recessive
|
|
|
| Rubinstein–Taybi syndrome (RSTS) |
CREBBP
|
dominant
|
|
1:125,000-300,000
|
| Sandhoff disease |
HEXB |
recessive
|
|
|
| Sanfilippo syndrome
|
SGSH, NAGLU, HGSNAT, GNS
|
|
|
1:70,000
|
| Scheuermann’s disease
|
1q21-q22 or 7q22
|
autosomal dominant
|
|
1:45
|
| Schwartz–Jampel syndrome |
HSPG2
|
recessive
|
|
|
| Sjogren-Larsson syndrome
|
ALDH3A2
|
Autosomal-recessive
|
[1], [2],[3]
|
|
| Skin fragility-woolly hair-palmoplantar keratoderma syndrome
|
DSP
|
|
|
|
| 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
|
[31]
|
|
| Sideroblastic anemia
|
ABCB7, SLC25A38, GLRX5
|
recessive
|
|
|
| Sly syndrome
|
GUSB
|
recessive
|
|
1:250,000
|
| Smith–Lemli–Opitz syndrome |
DHCR7
|
recessive
|
|
1:20,000-60,000
|
| Smith–Magenis syndrome |
17p11.2
|
dominant
|
|
1:15,000-25,000
|
| Snyder–Robinson syndrome |
Xp21.3-p22.12
|
recessive
|
|
<1:1,000,000
|
| Spinal muscular atrophy |
5q
|
|
|
1:10,000
|
| 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
|
|
|
| Split hand split foot-nystagmus syndrome
|
|
dominant
|
|
|
| SSB syndrome (SADDAN) |
FGFR3
|
dominant
|
|
|
| Stargardt disease (macular degeneration)
|
ABCA4, CNGB3, ELOVL4, PROM1
|
dominant or recessive
|
|
1-1.28:10,000
|
| Stickler syndrome (multiple forms) |
COL11A1, COL11A2, COL2A1, COL9A1 |
dominant or recessive
|
|
1:7,500-9,000 (U.S.)
|
| 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
|
|
1:60,000
|
| Thickened earlobes-conductive deafness syndrome
|
|
|
|
|
| Treacher Collins syndrome |
5q32–q33.1 (TCOF1, POLR1C, or POLR1D) |
dominant
|
|
1:50,000
|
| Tuberous sclerosis complex (TSC)
|
TSC1, TSC2
|
dominant
|
|
7-12:100,000
|
| Turner syndrome |
X |
monosomy
|
|
1:2,000-2,500 live female births
|
| Usher syndrome |
MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 |
recessive
|
|
3-6:100,000 (type I)
|
| Variegate porphyria |
PPOX |
dominant
|
|
|
| Viljoen-Kallis-Voges syndrome
|
|
recessive
|
|
|
| von Hippel–Lindau disease |
VHL
|
dominant
|
|
1:36,000
|
| von Willebrand disease |
VWF |
dominant
|
|
1:10,000
|
| Waardenburg syndrome |
PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10
|
dominant
|
|
1:42,000
|
| Warkany syndrome 2
|
8
|
trisomy
|
|
|
| Weissenbacher–Zweymüller syndrome |
COL11A2 |
recessive
|
|
|
| Weyer’s ulnar ray/oligodactyly syndrome
|
|
recessive
|
|
|
| Williams syndrome |
7q11.23 |
dominant
|
|
1:10,000
|
| Wilson disease |
ATP7B |
recessive
|
|
1:30,000
|
| Woodhouse–Sakati syndrome
|
C2ORF37 (2q22.3–q35) |
recessive
|
|
|
| Wolf–Hirschhorn syndrome |
4p16.3 |
dominant, often de novo
|
|
1:50,000
|
| 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
|
[32]
|
1:1,000,000
|
| X-linked severe combined immunodeficiency (X-SCID) |
X |
|
|
|
| X-linked sideroblastic anemia (XLSA) |
ALAS2 (X) |
|
|
|
| 47,XXX (triple X syndrome)
|
X
|
C
|
|
1:1,000 females
|
| XXXX syndrome (48, XXXX) |
X |
|
|
1:50,000 females
|
| XXXXX syndrome (49,XXXXX)
|
X
|
|
|
1:85,000-250,000 females
|
| XXXXY syndrome (49,XXXXY)
|
X
|
|
|
1:85,000-100,000 males
|
| XYY syndrome (47,XYY)
|
Y
|
|
|
1:1,000 male births
|
| XXYY syndrome (48,XXYY)
|
X, Y
|
|
|
1:18,000-40,000 males
|
| XYYY syndrome (48,XYYY)
|
Y
|
|
|
|
| XXXY syndrome (48,XXXY)
|
X
|
|
|
1:50,000 males
|
| XYYYY syndrome (49,XYYYY)
|
Y
|
|
|
1:1,000,000 males
|
| Zellweger syndrome
|
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26
|
recessive
|
|
|
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