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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
No signs/symptoms info
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IDH1
(UniProt - OMIM)
 HNRNPA1
(UniProt - OMIM)
HNRNPA2B1
(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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
(no synonyms)

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.