ODCs

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5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Waardenburg syndrome type 2

Aniridia - cerebellar ataxia - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF SOX10	(0.92) (0.63)	PAX6 PAX6

Citations in the biomedical literature:

Waardenburg syndrome type 2		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): (no synonyms)		Synonym(s): - Gillespie syndrome

	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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches

Waardenburg syndrome type 2		Aniridia - cerebellar ataxia - intellectual deficit
	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 - Renal / kidney anomalies - Telecanthus / canthal dystopy		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