| H00482 | |
| H number | H00482 |
| Name | Brachydactyly |
| Description | Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx of the thumb in type D; metacarpals in type E. Type C is characterized by shortening of multiple phalanges and hyperphalangy. BD is caused by improper development of the bones. |
| Category | Congenital malformation |
| Network | nt06501(H00482) HH signaling nt06507 TGFB signaling |
| Gene | (BDA1) IHH [HSA:3549] [KO:K11989] (BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664] (BDA1D, BDA2) BMPR1B [HSA:658] [KO:K13578] (BDA2) BMP2 [HSA:650] [KO:K21283] (BDB1) ROR2 [HSA:4920] [KO:K05123] (BDB2) NOG [HSA:9241] [KO:K04658] (BDD, BDE1) HOXD13 [HSA:3239] [KO:K09298] (BDE2) PTHLH [HSA:5744] [KO:K22608] (HTNB) PDE3A [HSA:5139] [KO:K19021] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB75 ICD-10: Q73.8 MeSH: D059327 OMIM: 112500 112600 112700 113000 611377 113200 113300 613382 112410 615072 616849 |
| Reference | PMID:19790289 AUTHORS Mundlos S TITLE The brachydactylies: a molecular disease family. JOURNAL Clin Genet 76:123-36 (2009) DOI:10.1111/j.1399-0004.2009.01238.x PMID:18554391 AUTHORS Temtamy SA, Aglan MS TITLE Brachydactyly. JOURNAL Orphanet J Rare Dis 3:15 (2008) DOI:10.1186/1750-1172-3-15 PMID:11455389 (IHH) AUTHORS Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L TITLE Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. JOURNAL Nat Genet 28:386-8 (2001) DOI:10.1038/ng577 PMID:20683927 (GDF5, BDA1C) AUTHORS Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE TITLE Mutations in GDF5 presenting as semidominant brachydactyly A1. JOURNAL Hum Mutat 31:1155-62 (2010) DOI:10.1002/humu.21338 PMID:16127465 (GDF5, BDA2) AUTHORS Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S TITLE Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. JOURNAL J Clin Invest 115:2373-81 (2005) DOI:10.1172/JCI25118 PMID:9288091 (GDF5, BDC) AUTHORS Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML TITLE Mutations in CDMP1 cause autosomal dominant brachydactyly type C. JOURNAL Nat Genet 17:18-9 (1997) DOI:10.1038/ng0997-18 PMID:25758993 (BMPR1B, BDA1D) AUTHORS Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE TITLE Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. JOURNAL Eur J Hum Genet 23:1640-5 (2015) DOI:10.1038/ejhg.2015.38 PMID:14523231 (BMPR1B, BDA2) AUTHORS Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S TITLE Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. JOURNAL Proc Natl Acad Sci U S A 100:12277-82 (2003) DOI:10.1073/pnas.2133476100 PMID:19327734 (BMP2) AUTHORS Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S TITLE Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. JOURNAL Am J Hum Genet 84:483-92 (2009) DOI:10.1016/j.ajhg.2009.03.001 PMID:10700182 (ROR2) AUTHORS Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO TITLE Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. JOURNAL Nat Genet 24:275-8 (2000) DOI:10.1038/73495 PMID:17668388 (NOG) AUTHORS Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S TITLE A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. JOURNAL Am J Hum Genet 81:388-96 (2007) DOI:10.1086/519697 PMID:12649808 (HOXD13) AUTHORS Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO TITLE Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. JOURNAL Am J Hum Genet 72:984-97 (2003) DOI:10.1086/374721 PMID:20170896 (PTHLH) AUTHORS Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S TITLE Deletion and point mutations of PTHLH cause brachydactyly type E. JOURNAL Am J Hum Genet 86:434-9 (2010) DOI:10.1016/j.ajhg.2010.01.023 PMID:25961942 (PDE3A) AUTHORS Maass PG, Aydin A, Luft FC, Schachterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Muhl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Ruschendorf F, Hubner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bahring S TITLE PDE3A mutations cause autosomal dominant hypertension with brachydactyly. JOURNAL Nat Genet 47:647-53 (2015) DOI:10.1038/ng.3302 |