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Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Brachydactyly type C

CARASIL

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


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

Citations in the biomedical literature:

Brachydactyly type C		CARASIL
	Synonym(s): (no synonyms)		Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C537093		External references: 1 OMIM reference - No MeSH references

Brachydactyly type C
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Short foot / brachydactyly of toes - Thin / hypoplastic / hyperconvex fingernails Occasional - Clinodactyly of fifth finger - Short stature / dwarfism / nanism - Symphalangy of fingers - Talipes-valgus
CARASIL
(no data available)