ODCs

Cytoscape Web

Click node...

Familial cerebral saccular aneurysm

11 OMIM references -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Familial cerebral saccular aneurysm

Acrogeria

COL3A1	(UniProt - OMIM)		COL3A1	(UniProt - OMIM)
ENG	(UniProt - OMIM)
TGFBR3	(UniProt - OMIM)


COMMON GENES	COL3A1

Citations in the biomedical literature:

Familial cerebral saccular aneurysm		Acrogeria
	Synonym(s): - Familial berry aneurysm - Familial intracranial saccular aneurysm		Synonym(s): - Acrogeria, Gottron type - Acrometageria - Gottron syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 11 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538187

Acrogeria
	Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Fine hair - Hyperextensible joints / articular hyperlaxity - Irregular / in bands / reticular skin hyperpigmentation - Lipoatrophy - Premature ageing - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Beaked nose - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Rippled skin - Scoliosis - Small foot - Small hand / acromicria - Telangiectasiae of the skin Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
Familial cerebral saccular aneurysm
(no data available)