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Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Waardenburg-Shah syndrome

3 OMIM references -
3 associated genes
22 signs/symptoms

Waardenburg syndrome type 2

Waardenburg-Shah syndrome

MITF	(UniProt - OMIM)		EDN3	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)		EDNRB	(UniProt - OMIM)
SOX10	(UniProt - OMIM)		SOX10	(UniProt - OMIM)


COMMON GENES	SOX10

Citations in the biomedical literature:

Waardenburg syndrome type 2		Waardenburg-Shah syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung 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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: normal Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Premature greying of hair - Telecanthus / canthal dystopy - White forelock / piebaldism

Waardenburg syndrome type 2		Waardenburg-Shah syndrome
	Very frequent - Heterochromia / mixed colouring of iris - Sensorineural deafness / hearing loss Frequent - Irregular / patchy skin hypopigmentation Occasional - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Constipation - Eyebrows anomalies - Intestinal obstruction / ileus - Intestinal / colonic anomaly - Macular pigmentary anomaly / cherry-red spot Frequent - Acute abdominal pain / colic - Anomalies of nose and olfaction - Broad nose / nasal bridge - High nasal bridge - Synophris / synophrys - Thin / hypoplastic ala nasi Occasional - Autosomal recessive inheritance - Retinitis pigmentosa / retinal pigmentary changes