ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Tietz syndrome

Autosomal recessive axonal neuropathy with neuromyotonia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.72)	HINT1

Citations in the biomedical literature:

Tietz syndrome		Autosomal recessive axonal neuropathy with neuromyotonia
	Synonym(s): - Hypopigmentation-deafness syndrome		Synonym(s): - ARAN-NM - ARCMT2-NM - Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536919		External references: 1 OMIM reference - 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
Autosomal recessive axonal neuropathy with neuromyotonia
(no data available)