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1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Muir-Torre syndrome
Glycogen storage disease due to aldolase A deficiency

MLH1 ALDOA
MSH2
MSH6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MLH1
(0.63)
ALDOA



Citations in the biomedical literature:


Muir-Torre syndrome
MLH1 MSH2 MSH6
Glycogen storage disease due to aldolase A deficiency
ALDOA



Muir-Torre syndrome
Glycogen storage disease due to aldolase A deficiency

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

Synonym(s):
- GSD due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis due to aldolase A deficiency
- Glycogenosis type 12

Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
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


Glycogen storage disease due to aldolase A deficiency

(no data available)