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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 3

Spastic paraplegia - Paget disease of bone

1 associated gene
No signs/symptoms info

Split hand-split foot malformation

Spastic paraplegia - Paget disease of bone

BTRC	(UniProt - OMIM)		VCP	(UniProt - OMIM)
FBXW4	(UniProt - OMIM)
SHFM1	(UniProt - OMIM)
TP63	(UniProt - OMIM)
WNT10B	(UniProt - OMIM)


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

Citations in the biomedical literature:

Split hand-split foot malformation		Spastic paraplegia - Paget disease of bone
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

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

	External references: 6 OMIM references - No MeSH references		External references: No 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
Spastic paraplegia - Paget disease of bone
(no data available)