Split-hand/foot malformation 4

Preferred Label : Split-hand/foot malformation 4;

Symbol : SHFM4;

CISMeF acronym : SHFM4;

Type : Phenotype, molecular basis known;

Description : Split-hand/split-foot malformation 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 SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor protein p63 gene (TP63, 603273.0005);

Prefixed ID : #605289;

Details

Origin ID

605289;

UMLS CUI

C1854442;

Automatic exact mappings (from CISMeF team)
- Isolated split hand-split foot malformation [ORDO Disease]
- Split-Hand foot malformation 2 [MeSH concept]
- TP63 wt Allele [NCIt concept]
- symbol withdrawn TP73L [HGNC gene]
- tumor protein p63 [ORDO Gene]
- tumor protein p63 [HGNC gene]
Broader ORDO disease(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Split-Hand-Foot Malformation 4 [MeSH concept]
- Split-Hand-Foot Malformation 4 [MeSH Supplementary Concept]
- split hand-foot malformation 4 [DO Concept]
DO Cross reference
- split hand-foot malformation 4 [DO Concept]
False automatic mappings
- Split-Hand foot malformation 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Aplasia/Hypoplasia of metatarsal bones [HPO term]
- Aplasia/Hypoplasia of the phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the phalanges of the toes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Ectrodactyly [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Syndactyly [HPO term]
- Triphalangeal thumb [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 4 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 4 [MeSH concept]

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