KEGG   DISEASE: Brachydactyly
Entry
H00482                      Disease                                
Name
Brachydactyly
  Subgroup
Brachydactyly type A
Brachydactyly type B
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00482  Brachydactyly
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
Related
pathway
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04340  Hedgehog signaling pathway
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]
Other DBs
ICD-11: LB75
ICD-10: Q73.8
MeSH: D059327
OMIM: 112500 112600 112700 113000 611377 113200 113300 613382 112410 615072 616849
Reference
  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
Reference
  Authors
Temtamy SA, Aglan MS
  Title
Brachydactyly.
  Journal
Orphanet J Rare Dis 3:15 (2008)
DOI:10.1186/1750-1172-3-15
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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