KEGG DISEASE: Split-hand/foot malformation

DISEASE: Split-hand/foot malformation

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 in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB99  Reduction defects of upper limb
     H00471  Split-hand/foot malformation
    LB9A  Reduction defects of lower limb
     H00471  Split-hand/foot malformation
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00471  Split-hand/foot malformation
  nt06505  WNT signaling
   H00471  Split-hand/foot malformation

Pathway

hsa04010

MAPK signaling pathway

hsa04310

Wnt signaling pathway

Network

nt06505 WNT signaling
nt06526 MAPK signaling

Gene

(SHFM1/1D) DLX5 [HSA:1749] [KO:K18489]
(SHFM4) TP63 [HSA:8626] [KO:K10149]
(SHFM6) WNT10B [HSA:7480] [KO:K01357]
(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

MeSH:

C574275 C565647 C565344 C567616

OMIM:

183600 220600 605289 225300 616890

Reference

PMID:16283879

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

PMID:16763964

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

PMID:12668597

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

PMID:24496061 (SHFM1)

Authors

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q

Title

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Journal

Eur J Hum Genet 22:1105-10 (2014)
DOI:10.1038/ejhg.2014.7

Reference

PMID:22121204 (SHFM1D)

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

PMID:10839977 (SHFM4)

Authors

Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P

Title

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Journal

Am J Hum Genet 67:59-66 (2000)
DOI:10.1086/302972

Reference

PMID:21554266 (SHFM6)

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

PMID:26755636 (SFMMP)

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

LinkDB

» Japanese version

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