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Isolated optic nerve hypoplasia

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Isolated optic nerve hypoplasia

Tietz syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.92)	MITF

Citations in the biomedical literature:

Isolated optic nerve hypoplasia		Tietz syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Hypopigmentation-deafness syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536919

Tietz syndrome
	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
Isolated optic nerve hypoplasia
(no data available)