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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
1 OMIM reference -
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Maffucci syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Estrogen resistance syndrome
Idiopathic aplastic anemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Shwachman-Diamond syndrome
Spastic paraplegia - Paget disease of bone
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Transaldolase deficiency
Hemolytic anemia due to adenylate kinase deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Reticular dysgenesis
Zellweger syndrome
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
IDH1 O75874147700
No signs/symptoms info available.