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Waardenburg syndrome type 3

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
7 signs/symptoms

Waardenburg syndrome type 3

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 3		Tietz syndrome
	Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies		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: 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: 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 - Hearing loss / hypoacusia / deafness

Waardenburg syndrome type 3		Tietz syndrome
	Very frequent - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Irregular length / shape of fingers - Microcephaly - Narrow nasal root - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm - Tented upper lip - Thick / bushy eyebrows - Upper limb segmental anomalies Frequent - Albinism (hair) - Atelectasia / pulmonary collapse - Telecanthus / canthal dystopy Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Atrial septal defect / interauricular communication - Camptodactyly of some fingers - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Tracheomalacia / tracheobronchomalacia		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism