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Waardenburg syndrome type 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
7 signs/symptoms

Waardenburg syndrome type 1

Tietz syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Waardenburg syndrome type 1		Tietz syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Hypopigmentation-deafness 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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536919


COMMON SIGNS	- Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Hearing loss / hypoacusia / deafness

Waardenburg syndrome type 1		Tietz syndrome
	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 - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Short / small nose - Telecanthus / canthal dystopy - White forelock / piebaldism Frequent - Broad nasal root - Hair and scalp anomalies - Premature greying of hair - 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 - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Meningocele - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida - Strabismus / squint		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Diffuse / generalised skin hypopigmentation / cutaneous albinism