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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Split hand-split foot malformation

Barth syndrome

BTRC	(UniProt - OMIM)		TAZ	(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	(0.84)	TAZ

Citations in the biomedical literature:

Split hand-split foot malformation		Barth syndrome
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - 3-methylglutaconic aciduria type 2 - BTHS - Cardioskeletal myopathy with neutropenia and abnormal mitochondria - Cardioskeletal myopathy-neutropenia - MGA2 - X-linked cardioskeletal myopathy and neutropenia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease - Rare immune disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: x-linked recessive

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056889


COMMON SIGNS	- X-linked recessive inheritance

Split hand-split foot malformation		Barth syndrome
	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		Very frequent - Cardiomyopathy / hypertrophic / dilated Frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Endocardium anomalies / fibroelastosis / endocarditis - Polynuclear cells / neutrophils anomalies / neutropenia