ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 10

5 OMIM references -
3 associated genes
13 signs/symptoms

Waardenburg syndrome type 1

Waardenburg syndrome type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3 PAX3	(0.9) (0.52)	SOX10 MITF

Citations in the biomedical literature:

Waardenburg syndrome type 1		Waardenburg syndrome type 2

	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 maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Premature greying of hair - Ptosis - Telecanthus / canthal dystopy - White forelock / piebaldism

Waardenburg syndrome type 1		Waardenburg syndrome type 2
	Very frequent - Albinism (hair) - Anomalies of ear and hearing - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Defect / anomaly of lacrimal system - Eyebrows anomalies - Prognathism / prognathia - Short / small nose Frequent - Broad nasal root - Hair and scalp anomalies - Synophris / synophrys - Tented upper lip - Thin / hypoplastic ala nasi Occasional - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Meningocele - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida - Strabismus / squint		Very frequent - Sensorineural deafness / hearing loss Occasional - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies