ODCs

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1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Brachydactyly type C

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

BMPR1B	(UniProt - OMIM)		APP	(UniProt - OMIM)
GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.56)	APP

Citations in the biomedical literature:

Brachydactyly type C		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Arctic type

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance

Brachydactyly type C		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Very frequent - 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		Very frequent - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline