ODCs

Click node...

5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Waardenburg syndrome type 2

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:

Waardenburg syndrome type 2		Autosomal recessive axonal neuropathy with neuromyotonia
	Synonym(s): (no synonyms)		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 maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal 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: 5 OMIM references - 1 MeSH reference: C536463		External references: 1 OMIM reference - No MeSH references

Waardenburg syndrome type 2
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Premature greying of hair - Sensorineural deafness / hearing loss Frequent - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy
Autosomal recessive axonal neuropathy with neuromyotonia
(no data available)