 | DISEASE: Brachydactyly | Help |
| Entry | |
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| Name | Brachydactyly |
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| Subgroup | Brachydactyly type A (BDA)Brachydactyly type B (BDB)Brachydactyly type C (BDC)Brachydactyly type D (BDD)Brachydactyly type E (BDE)Hypertension and brachydactyly syndrome (HTNB) |
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| 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. |
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| Category | Congenital malformation |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Structural developmental anomalies primarily affecting one body system Structural developmental anomalies of the skeleton LB75 Brachydactyly H00482 Brachydactyly Pathway-based classification of diseases [BR:br08402] Signal transduction nt06505 WNT signaling H00482 Brachydactyly nt06501 HH signaling H00482 Brachydactyly nt06507 TGFB signaling H00482 Brachydactyly BRITE hierarchy |
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| Pathway | | hsa04350 | TGF-beta signaling pathway |
| hsa04340 | Hedgehog signaling pathway |
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| Network | nt06501 HH signalingnt06505 WNT signalingnt06507 TGFB signaling |
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| 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] |
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| Other DBs | | OMIM: | 112500 615072 616849 112600 113000 611377 113100 113200 113300 613382 112410 |
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| Reference | PMID:19790289 |
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| Authors | Mundlos S |
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| Title | The brachydactylies: a molecular disease family. |
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| Journal | Clin Genet 76:123-36 (2009)DOI:10.1111/j.1399-0004.2009.01238.x |
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| Reference | PMID:18554391 |
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| Authors | Temtamy SA, Aglan MS |
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| Title | Brachydactyly. |
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| Journal | Orphanet J Rare Dis 3:15 (2008)DOI:10.1186/1750-1172-3-15 |
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| Reference | PMID:11455389 (IHH) |
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| Authors | Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L |
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| Title | Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. |
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| Journal | Nat Genet 28:386-8 (2001)DOI:10.1038/ng577 |
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| Reference | PMID:20683927 (GDF5, BDA1C) |
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| Authors | Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE |
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| Title | Mutations in GDF5 presenting as semidominant brachydactyly A1. |
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| Journal | Hum Mutat 31:1155-62 (2010)DOI:10.1002/humu.21338 |
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| Reference | PMID:16127465 (GDF5, BDA2) |
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| 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 |
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| Title | Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. |
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| Journal | J Clin Invest 115:2373-81 (2005)DOI:10.1172/JCI25118 |
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| Reference | PMID:9288091 (GDF5, BDC) |
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| 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 |
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| Title | Mutations in CDMP1 cause autosomal dominant brachydactyly type C. |
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| Journal | Nat Genet 17:18-9 (1997)DOI:10.1038/ng0997-18 |
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| Reference | PMID:25758993 (BMPR1B, BDA1D) |
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| Authors | Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE |
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| Title | Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. |
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| Journal | Eur J Hum Genet 23:1640-5 (2015)DOI:10.1038/ejhg.2015.38 |
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| Reference | PMID:14523231 (BMPR1B, BDA2) |
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| 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 |
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| Title | Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. |
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| Journal | Proc Natl Acad Sci U S A 100:12277-82 (2003)DOI:10.1073/pnas.2133476100 |
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| Reference | PMID:19327734 (BMP2) |
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| 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 |
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| Title | Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. |
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| Journal | Am J Hum Genet 84:483-92 (2009)DOI:10.1016/j.ajhg.2009.03.001 |
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| Reference | PMID:10700182 (ROR2) |
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| Authors | Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO |
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| Title | Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. |
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| Journal | Nat Genet 24:275-8 (2000)DOI:10.1038/73495 |
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| Reference | PMID:17668388 (NOG) |
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| 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 |
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| Title | A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. |
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| Journal | Am J Hum Genet 81:388-96 (2007)DOI:10.1086/519697 |
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| Reference | PMID:12649808 (HOXD13) |
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| Authors | Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO |
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| Title | Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. |
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| Journal | Am J Hum Genet 72:984-97 (2003)DOI:10.1086/374721 |
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| Reference | PMID:20170896 (PTHLH) |
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| 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 |
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| Title | Deletion and point mutations of PTHLH cause brachydactyly type E. |
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| Journal | Am J Hum Genet 86:434-9 (2010)DOI:10.1016/j.ajhg.2010.01.023 |
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| Reference | PMID:25961942 (PDE3A) |
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| 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 |
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| Title | PDE3A mutations cause autosomal dominant hypertension with brachydactyly. |
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| Journal | Nat Genet 47:647-53 (2015)DOI:10.1038/ng.3302 |
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