ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Aniridia - cerebellar ataxia - intellectual deficit

1 OMIM reference -
1 associated gene
10 signs/symptoms

Tietz syndrome

Aniridia - cerebellar ataxia - intellectual deficit

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Tietz syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): - Hypopigmentation-deafness syndrome		Synonym(s): - Gillespie syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): (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		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 recessive

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

Tietz syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	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 - Aniridia / iris hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches