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1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
10 signs/symptoms
Muir-Torre syndrome
Papilloma of choroid plexus

MLH1 TP53
MSH2
MSH6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSH2
MSH6
(0.73)
(0.63)
TP53
TP53



Citations in the biomedical literature:


Muir-Torre syndrome
MLH1 MSH2 MSH6
Papilloma of choroid plexus
TP53



Muir-Torre syndrome
Papilloma of choroid plexus

Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D055653
External references:
1 OMIM reference -
1 MeSH reference: D020288

Muir-Torre syndrome
Papilloma of choroid plexus

Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer


Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus