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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Brachydactyly type A2

1 OMIM reference -
3 associated genes
6 signs/symptoms

CARASIL

Brachydactyly type A2

HTRA1	(UniProt - OMIM)		BMP2	(UniProt - OMIM)
			BMPR1B	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTRA1	(0.59)	GDF5

Citations in the biomedical literature:

CARASIL		Brachydactyly type A2
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - Brachydactyly, Mohr-Wriedt type

	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 circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537089

Brachydactyly type A2
	Very frequent - Autosomal dominant inheritance - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia
CARASIL
(no data available)