ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Tietz syndrome

Early-onset autosomal dominant Alzheimer disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.56)	APP

Citations in the biomedical literature:

Tietz syndrome		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - Hypopigmentation-deafness syndrome		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536919		External references: 16 OMIM references - No MeSH references

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
Early-onset autosomal dominant Alzheimer disease
(no data available)