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

PROTEIN INTERACTIONS: 1

Brachydactyly type A1

3 OMIM references -
2 associated genes
13 signs/symptoms

CARASIL

Brachydactyly type A1

HTRA1	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(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 A1
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - Brachydactyly, Farabee 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088

Brachydactyly type A1
	Very frequent - Autosomal dominant inheritance - Short big toe - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
CARASIL
(no data available)