ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
6 associated genes
12 signs/symptoms

Tietz syndrome

Peters anomaly

MITF	(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)	MITF	(0.92)	PAX6

Citations in the biomedical literature:

Tietz syndrome		Peters anomaly
	Synonym(s): - Hypopigmentation-deafness syndrome		Synonym(s): - Peters congenital glaucoma

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		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: 1 OMIM reference - 1 MeSH reference: C536919		External references: 1 OMIM reference - 1 MeSH reference: C537884

Tietz syndrome		Peters anomaly
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hearing loss / hypoacusia / deafness		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