Split-Hand/foot Malformation 6

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OMIM 57 225300 Disease Ontology 12 DOID:0090026 ICD10 33 Q71.6 MedGen 42 C2749665

MeSH 44 D017880 SNOMED-CT via HPO 69 258211005 299034005 71358006 32113001 205358006 249820005 249769001 268251006 34048007 more UMLS 73 C0265554 C2749665

OMIM : ⁵⁷ Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). (225300)

MalaCards based summary : Split-Hand/foot Malformation 6, also known as shfm6, is related to split-hand/foot malformation 1 and split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation 6 is WNT10B (Wnt Family Member 10B), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are split hand and hand oligodactyly

Disease Ontology : ¹² A split-hand/foot malformation that has material basis in homozygous mutation in the WNT10B gene on chromosome 12q13.

UniProtKB/Swiss-Prot : ⁷⁵ Split-hand/foot malformation 6: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Clinical features from OMIM:

225300

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 6

Search GEO for disease gene expression data for Split-Hand/foot Malformation 6.