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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Behavioral variant of frontotemporal dementia
1 OMIM reference -
6 associated genes
No signs/symptoms info
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Behavioral variant of frontotemporal dementia

IDH1
(UniProt - OMIM)
 C9ORF72
(UniProt - OMIM)
CHMP2B
(UniProt - OMIM)
GRN
(UniProt - OMIM)
MAPT
(UniProt - OMIM)
PSEN1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IDH1
(0.63)
VCP


Citations in the biomedical literature:


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
IDH1
Behavioral variant of frontotemporal dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Behavioral variant of frontotemporal dementia

Synonym(s):
(no synonyms)

Synonym(s):
- bv-FTD
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.