ODCs

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5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
8 signs/symptoms

Waardenburg syndrome type 2

Hereditary cerebral hemorrhage with amyloidosis, Dutch type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF SNAI2	(0.56) (0.56)	APP APP

Citations in the biomedical literature:

Waardenburg syndrome type 2		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Dutch type - HCHWA-D

	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 - Rare systemic or rheumatologic 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: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243

Waardenburg syndrome type 2		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	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 - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Early death / lethality