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Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

Waardenburg syndrome type 2

Papilloma of choroid plexus

MITF	(UniProt - OMIM)		TP53	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)
SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SNAI2	(0.63)	TP53

Citations in the biomedical literature:

Waardenburg syndrome type 2		Papilloma of choroid plexus

	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 neurologic disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 1 OMIM reference - 1 MeSH reference: D020288

Waardenburg syndrome type 2		Papilloma of choroid plexus
	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		Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus