KEGG   DISEASE: Synpolydactyly
Entry
H00459                      Disease                                
Name
Synpolydactyly
  Supergrp
Syndactyly [DS:H01095]
Description
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1.
Category
Congenital malformation
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
    LB79  Syndactyly
     H00459  Synpolydactyly
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00459  Synpolydactyly
Pathway
hsa04820 Cytoskeleton in muscle cells   
Network
nt06539 Cytoskeleton in muscle cells
Gene
(SPD1) HOXD13 [HSA:3239] [KO:K09298]
(SPD2) FBLN1 [HSA:2192] [KO:K17307]
Other DBs
ICD-11: LB79.Y
MeSH: C538153 C564278
OMIM: 186000 608180
Reference
PMID:12357469
  Authors
Goodman FR
  Title
Limb malformations and the human HOX genes.
  Journal
Am J Med Genet 112:256-65 (2002)
DOI:10.1002/ajmg.10776
Reference
PMID:21782042
  Authors
Brison N, Tylzanowski P, Debeer P
  Title
Limb skeletal malformations - what the HOX is going on?
  Journal
Eur J Med Genet 55:1-7 (2012)
DOI:10.1016/j.ejmg.2011.06.003
Reference
PMID:18177473
  Authors
Malik S, Grzeschik KH
  Title
Synpolydactyly: clinical and molecular advances.
  Journal
Clin Genet 73:113-20 (2008)
DOI:10.1111/j.1399-0004.2007.00935.x
Reference
PMID:8817328 (SPD1)
  Authors
Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M
  Title
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
  Journal
Hum Mol Genet 5:945-52 (1996)
DOI:10.1093/hmg/5.7.945
Reference
PMID:11836357 (SPD2)
  Authors
Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
  Title
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
  Journal
J Med Genet 39:98-104 (2002)
DOI:10.1136/jmg.39.2.98
LinkDB

» Japanese version

DBGET integrated database retrieval system