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Congenital glaucoma

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Congenital glaucoma

Acrogeria

CYP1B1	(UniProt - OMIM)		COL3A1	(UniProt - OMIM)
LTBP2	(UniProt - OMIM)
MYOC	(UniProt - OMIM)


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

Citations in the biomedical literature:

Congenital glaucoma		Acrogeria
	Synonym(s): (no synonyms)		Synonym(s): - Acrogeria, Gottron type - Acrometageria - Gottron syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 4 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
Congenital glaucoma
(no data available)