ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

3 OMIM references -
3 associated genes
22 signs/symptoms

Waardenburg syndrome type 1

Waardenburg-Shah syndrome


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

Citations in the biomedical literature:

Waardenburg syndrome type 1		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: 1-9 / 100 000 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: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - Premature greying of hair - Synophris / synophrys - Telecanthus / canthal dystopy - Thin / hypoplastic ala nasi - White forelock / piebaldism

Waardenburg syndrome type 1		Waardenburg-Shah syndrome
	Very frequent - Albinism (hair) - Anomalies of ear and hearing - Defect / anomaly of lacrimal system - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Short / small nose Frequent - Broad nasal root - Hair and scalp anomalies - Tented upper lip Occasional - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Meningocele - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida - Strabismus / squint		Very frequent - Constipation - 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 Occasional - Autosomal recessive inheritance - Retinitis pigmentosa / retinal pigmentary changes