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1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
No signs/symptoms info
Muir-Torre syndrome
Proximal spinal muscular atrophy type 4

MLH1 SMN1
MSH2 SMN2
MSH6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSH2
MSH2
(0.63)
(0.63)
SMN1
SMN2



Citations in the biomedical literature:


Muir-Torre syndrome
MLH1 MSH2 MSH6
Proximal spinal muscular atrophy type 4
SMN1 SMN2



Muir-Torre syndrome
Proximal spinal muscular atrophy type 4

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

Synonym(s):
- SMA-IV
- SMA4
- Spinal muscular atrophy, adult form

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D055653
External references:
1 OMIM reference -
No MeSH references

Muir-Torre syndrome

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


Proximal spinal muscular atrophy type 4

(no data available)