KEGG   DISEASE: Split-hand/foot malformationHelp
Entry
H00471                      Disease                                

Name
Split-hand/foot malformation
Description
Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00471  Split-hand/foot malformation
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
    Congenital deformities of fingers or toes
     LB99  Reduction defects of upper limb
      H00471  Split-hand/foot malformation
     LB9A  Reduction defects of lower limb
      H00471  Split-hand/foot malformation
BRITE hierarchy
Gene
(SHFM4) TP63 [HSA:8626] [KO:K10149]
(SHFM6) WNT10B [HSA:7480] [KO:K01357]
(SHFM1D) DLX5 [HSA:1749] [KO:K18489]
(SFMMP) MAP3K20 [HSA:51776] [KO:K04424]
Comment
SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss.
SFMMP refers to split-foot malformation with mesoaxial polydactyly.
Other DBs
ICD-11: LB99.8 LB9A.6
ICD-10: Q71.6 Q72.7
MeSH: C567893 C564056 C565437 C565344 C564674 C567616
OMIM: 183600 605289 225300 220600 616890
Reference
  Authors
Elliott AM, Evans JA, Chudley AE
  Title
Split hand foot malformation (SHFM).
  Journal
Clin Genet 68:501-5 (2005)
DOI:10.1111/j.1399-0004.2005.00530.x
Reference
  Authors
Basel D, Kilpatrick MW, Tsipouras P
  Title
The expanding panorama of split hand foot malformation.
  Journal
Am J Med Genet A 140:1359-65 (2006)
DOI:10.1002/ajmg.a.31304
Reference
  Authors
Duijf PH, van Bokhoven H, Brunner HG
  Title
Pathogenesis of split-hand/split-foot malformation.
  Journal
Hum Mol Genet 12 Spec No 1:R51-60 (2003)
DOI:10.1093/hmg/ddg090
Reference
  Authors
Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W
  Title
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
  Journal
Clin Genet 82:48-55 (2012)
DOI:10.1111/j.1399-0004.2011.01698.x
Reference
  Authors
Shamseldin HE, Faden MA, Alashram W, Alkuraya FS
  Title
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
  Journal
J Med Genet 49:16-20 (2012)
DOI:10.1136/jmedgenet-2011-100556
Reference
  Authors
Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G
  Title
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
  Journal
Genome Res 26:183-91 (2016)
DOI:10.1101/gr.199430.115

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