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3-hydroxy-3-methylglutaric aciduria
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Weill-Marchesani syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Synonym(s):
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hydroxymethylglutaric aciduria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HMGCL P35914613898
No signs/symptoms info available.