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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
6 associated genes
12 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Peters anomaly

YWHAE	(UniProt - OMIM)		CYP1B1	(UniProt - OMIM)
			FOXC1	(UniProt - OMIM)
			HDAC9	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			PITX2	(UniProt - OMIM)
			TGFB2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.82)	HDAC9

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Peters anomaly
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - Peters congenital glaucoma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537884

Peters anomaly
	Very frequent - Anomalies of eyes and vision - Autosomal recessive inheritance - Microcornea Frequent - Corneal dystrophy Occasional - Anomalies of teeth and dentition - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dental malocclusion - Hypoplastic mandibula / partial absence of the mandibula - Nystagmus
Distal 17p13.3 microdeletion syndrome
(no data available)