ODCs

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2 OMIM references -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
No signs/symptoms info

Familial multiple trichoepithelioma

Constitutional mismatch repair deficiency syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CYLD	(0.72)	PMS2

Citations in the biomedical literature:

Familial multiple trichoepithelioma		Constitutional mismatch repair deficiency syndrome
	Synonym(s): (no synonyms)		Synonym(s): - CMMR-D syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C536552		External references: 1 OMIM reference - No MeSH references

Familial multiple trichoepithelioma
	Very frequent - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Skin tumors / lumps / epidermal cysts - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Telangiectasiae of the skin Occasional - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
Constitutional mismatch repair deficiency syndrome
(no data available)