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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
6 OMIM references -
5 associated genes
9 signs/symptoms
Adult-onset distal myopathy due to VCP mutation
Split hand-split foot malformation

VCP BTRC
FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
VCP
VCP
(0.73)
(0.72)
(0.63)
BTRC
TP63
SHFM1



Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Adult-onset distal myopathy due to VCP mutation
Split hand-split foot malformation

Synonym(s):
(no synonyms)

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
6 OMIM references -
No MeSH references

Split hand-split foot malformation

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance


Adult-onset distal myopathy due to VCP mutation

(no data available)