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 21 - 30 of 40 in total
HPO ID HPO Term
HP:0002007 Frontal bossing
HP:0002059 Cerebral atrophy
HP:0002119 Ventriculomegaly
HP:0002126 Polymicrogyria
HP:0002133 Status epilepticus
HP:0002167 Abnormality of speech or vocalization
HP:0002187 Intellectual disability, profound
HP:0002190 Choroid plexus cyst
HP:0002365 Hypoplasia of the brainstem
HP:0002904 Hyperbilirubinemia
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