Disorder |
Chromosome or gene |
Type |
|
1p36 deletion syndrome |
1p36 |
D |
|
18p deletion syndrome |
18p |
D |
|
21-hydroxylase deficiency |
6p21.3 |
|
|
Alpha 1-antitrypsin deficiency |
14q32 |
|
|
AAA syndrome (achalasia-addisonianism-alacrima) |
AAAS |
|
|
Aarskog–Scott syndrome |
FGD1 |
|
|
ABCD syndrome |
EDNRB |
|
|
Aceruloplasminemia |
CP (3p26.3) |
|
|
Acheiropodia |
LMBR1 |
|
|
Achondrogenesis type II |
COL2A1 (12q13.11) |
|
|
achondroplasia | 4p16.3 | S |
|
Acute intermittent porphyria | HMBS | |
|
adenylosuccinate lyase deficiency | ADSL |
|
|
Adrenoleukodystrophy | ABCD1 | |
|
Alagille syndrome | JAG1, NOTCH2 |
|
|
ADULT syndrome |
TP63 |
|
|
Aicardi–Goutières syndrome | TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 |
|
|
Albinism | | |
|
Alexander disease | GFAP | |
|
alkaptonuria | HGD | |
|
Alport syndrome | 10q26.13 | |
|
Alternating hemiplegia of childhood |
ATP1A3 |
|
|
Amyotrophic lateral sclerosis | | |
|
Alström syndrome | ALMS1 | |
|
Alzheimer's disease | | |
|
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 |
[1] |
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 |
|
|
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 |
|
Di George's syndrome | 22q11.2 | D |
|
Distal hereditary motor neuropathies, multiple types | HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7,
DCTN1, TRPV4, SIGMAR1 |
|
|
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 |
|
|
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 | | |
|
familial adenomatous polyposis | APC | |
|
familial dysautonomia | IKBKAP |
|
|
Feingold syndrome |
MYCN |
|
|
FG syndrome | MED12 |
|
|
Friedreich's ataxia | FXN | |
|
G6PD deficiency | | |
|
galactosemia | GALT, GALK1, GALE | |
|
Gaucher disease | GBA (1) | |
|
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 |
[2] |
Huntington's disease | HD | T |
|
Hunter syndrome |
IDS |
|
|
Hurler syndrome |
IDUA |
|
|
Hutchinson-Gilford progeria syndrome | | |
|
Hyperlysinemia |
AASS |
recessive |
|
hyperoxaluria, primary | AGXT, GRHPR, DHDPSL |
|
|
hyperphenylalaninemia | | |
|
Hypoalphalipoproteinemia (Tangier disease) |
ABCA1 |
|
|
Hypochondrogenesis | COL2A1 |
|
|
Hypochondroplasia |
FGFR3 (4p16.3) |
|
|
Immunodeficiency, centromere instability and 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 |
|
|
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 |
[3][4] |
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 | | |
|
Muscular dystrophy, Duchenne and Becker type | | |
|
Myostatin-related muscle hypertrophy | MSTN |
|
|
myotonic dystrophy | DMPK, CNBP | dominant |
|
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 Ovarian 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 |
[5] |
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 |
|
spondyloepiphyseal dysplasia congenita (SED) | COL2A1 |
dominant |
|
Shprintzen–Goldberg syndrome | FBN1 | dominant |
|
sickle cell anemia | 11p15 | P |
|
Siderius X-linked mental retardation syndrome | Xp11.22, PHF8 | PD |
|
Sideroblastic anemia |
ABCB7, SLC25A38, GLRX5 |
recessive |
|
Sly syndrome |
GUSB |
recessive |
|
Smith-Lemli-Opitz syndrome | DHCR7 |
recessive |
|
Smith Magenis Syndrome | 17p11.2 |
dominant |
|
Spinal muscular atrophy | | |
|
Spinocerebellar ataxia (types 1-29) | ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 |
dominant or recessive |
|
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 | 7 | dominant |
|
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 mental retardation and macroorchidism (fragile X syndrome) | X | |
|
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) | X | |
|
Xp11.22 deletion | X CENPVL1, CENPVL2, GSPT2, MAGED1 | D |
|
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 |
|