Split-hand/foot malformation 6

Preferred Label : Split-hand/foot malformation 6;

Symbol : SHFM6;

CISMeF acronym : SHFM6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectrodactyly, autosomal recessive;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 10B gene (WNT10B, 601906.0001);

Prefixed ID : #225300;

Details

Origin ID

225300;

UMLS CUI

C2749665;

Automatic exact mappings (from CISMeF team)
- Isolated split hand-split foot malformation [ORDO Disease]
- WNT10B wt Allele [NCIt concept]
- Wnt family member 10B [ORDO Gene]
- Wnt family member 10B [HGNC gene]
Broader ORDO disease(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Split-Hand-Foot Malformation 6 [MeSH concept]
- Split-Hand-Foot Malformation 6 [MeSH Supplementary Concept]
- split hand-foot malformation 6 [DO Concept]
DO Cross reference
- split hand-foot malformation 6 [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 10b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Finger syndactyly [HPO term]
- Foot oligodactyly [HPO term]
- Hand oligodactyly [HPO term]
- Incomplete penetrance [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Toe syndactyly [HPO term]
ORDO concept(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand-Foot Malformation 6 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 6 [MeSH concept]

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