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Atelosteogenesis type I

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Atelosteogenesis type I

Acrogeria

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	COL3A1

Citations in the biomedical literature:

Atelosteogenesis type I		Acrogeria
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Acrogeria, Gottron type - Acrometageria - Gottron syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535396		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
Atelosteogenesis type I
(no data available)