ODCs

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5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

3 OMIM references -
2 associated genes
16 signs/symptoms

Waardenburg syndrome type 2

Li-Fraumeni syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SNAI2	(0.63)	TP53

Citations in the biomedical literature:

Waardenburg syndrome type 2		Li-Fraumeni 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 endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease

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

	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: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 3 OMIM references - 1 MeSH reference: D016864


COMMON SIGNS	- Autosomal dominant inheritance

Waardenburg syndrome type 2		Li-Fraumeni syndrome
	Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Premature greying of hair - Sensorineural deafness / hearing loss Frequent - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy		Very frequent - Acute leukemia - Bone / osseous neoplasm / tumor / carcinoma / cancer - Breast neoplasm / tumor / carcinoma / cancer - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Colon neoplasm / tumor / carcinoma / cancer - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Lymphoma - Neoplasms / tumors - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Sarcoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Occasional - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Melanoma - Oropharyngeal neoplasm / tumor / carcinoma / cancer