Cytoscape Web
Click node...

Pilomatrixoma
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pilomatrixoma
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

CTNNB1
(UniProt - OMIM)
 LDHB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CTNNB1
(0.63)
LDHB


Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
LDHB



Pilomatrixoma
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma
Synonym(s):
- GSD due to lactate dehydrogenase H-subunit deficiency
- Glycogenosis due to lactate dehydrogenase H-subunit deficiency
- LDH-H subunit deficiency
- Lactate dehydrogenase B deficiency
Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D018296
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.