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1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Atelosteogenesis type III

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

Acrogeria

Atelosteogenesis type III

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Acrogeria		Atelosteogenesis type III
	Synonym(s): - Acrogeria, Gottron type - Acrometageria - Gottron syndrome		Synonym(s): - AO3 - AOIII

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

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

	Epidemiological data: (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

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

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 III
(no data available)