Split-hand/foot malformation 1

Preferred Label : Split-hand/foot malformation 1;

Symbol : SHFM1;

CISMeF acronym : ECD; SHFD1; SHFM1; SHSF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Split-hand deformity; SHFD1; Split-hand/foot malformation 1 with or without deafness; Split-hand/foot deformity 1; ECD; Ectrodactyly; SHSF1;

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 SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). - Genetic Heterogeneity of Split-hand/Split-foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4, caused by mutation in the TP63 gene (603273) on chromosome 3q27; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the distal-less homeobox-5 gene (DLX5, 600028.0002);

Prefixed ID : #183600;

Details

Origin ID

183600;

UMLS CUI

C2931019;

Automatic exact mappings (from CISMeF team)
- 26S Proteasome Complex Subunit SEM1 [NCIt concept]
- Ectrodactyly [PASCAL descriptor]
- Ectrodactyly [MedDRA Preferred Term]
- Ectrodactyly [HPO term]
- Ectrodactyly (disorder) [SNOMED CT concept]
- Electron-Capture Dissociation [NCIt concept]
- Erdheim-Chester Disease [NCIt concept]
- Esophageal Columnar Dysplasia [NCIt concept]
- SEM1 26S proteasome subunit [ORDO Gene]
- SEM1 Gene [NCIt concept]
- SEM1 wt Allele [NCIt concept]
- Split hand [ICD-11 Subcategory]
- atrioventricular septal defect [DO Concept]
- ectrodactyly [MeSH concept]
- ectrodactyly [MeSH Supplementary Concept]
- ectrodactyly [SNOMED Notion]
- schools, dental [CISMeF resources Type]
- schools, dental [MeSH Descriptor]
- split hand foot deformity 1 [MeSH concept]
- ultrasonography, Doppler [CISMeF resources Type]
- ultrasonography, doppler [MeSH Descriptor]
Broader ORDO disease(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Ectrodactyly [NCIt concept]
- Isolated split hand-split foot malformation [ORDO Disease]
- Split-Hand/Foot Malformation Type 1 [NCIt concept]
- split hand foot deformity [MeSH Supplementary Concept]
- split hand foot deformity [MeSH concept]
- split hand foot malformation [Disease (Nov.)]
- split hand-foot malformation [DO Concept]
- split hand-foot malformation 1 [DO Concept]
DO Cross reference
- split hand-foot malformation 1 [DO Concept]
Genes related to phenotype
- Distal-less homeobox 5 [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Ectrodactyly [HPO term]
- Foot oligodactyly [HPO term]
- Hand oligodactyly [HPO term]
- Hearing impairment [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand/Foot Malformation Type 1 [NCIt concept]
- split hand foot deformity 1 [MeSH concept]

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