Cytoscape Web
Click node...


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

ALDOA MLH1
MSH2
MSH6


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

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)