fumarase deficiency

Summary
Synonym
  • FMRD
  • fumaric aciduria
Definition
An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
Super Class
amino acid metabolic disorder autosomal recessive disease
External Links
Disease Ontology
DOID:0111261
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
2271 FH fumarate hydratase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000316 Hypertelorism
HP:0000463 Anteverted nares
HP:0000505 Visual impairment
HP:0000648 Optic atrophy
HP:0000980 Pallor
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
Displaying 1 entry
Gene ID Gene Symbol Description
2271 FH fumarate hydratase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024