Fumarase deficiency

Preferred Label : Fumarase deficiency;

Symbol : FMRD;

CISMeF acronym : FMRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fumaric aciduria;

Description : Fumarase deficiency is a severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy (summary by Kerrigan et al., 2000 and Mroch et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fumarate hydratase gene (FH, 136850.0001);

Laboratory abnormalities : Lactic acidemia; Pyruvic acidemia; Fumaric aciduria; Fumarase activity (mitochondrial and cytosolic) is decreased; Increased urinary citric acid cycle intermediates; Increased urinary fumaric acid; Increased urinary malic acid; Increased urinary succinic acid; Hyperbilirubinemia in those with liver failure;

Prefixed ID : #606812;

Details

Origin ID

606812;

UMLS CUI

C0342770;

Automatic exact mappings (from CISMeF team)
- Deficiency of fumarate hydratase (disorder) [SNOMED CT concept]
- FH wt Allele [NCIt concept]
- fumarase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Fumarase deficiency [ICD-11 More detail]
- Fumarase deficiency [MeSH concept]
- Fumarase deficiency (disorder) [SNOMED CT concept]
- Fumaric aciduria [MeSH concept]
- Fumaric aciduria [ORDO Disease]
- fumaric aciduria [MeSH Supplementary Concept]
DO Cross reference
- fumarase deficiency [DO Concept]
Genes related to phenotype
- Fumarate hydratase [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aminoaciduria [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cholestasis [HPO term]
- Choroid plexus cyst [HPO term]
- Cutaneous leiomyoma [HPO term]
- Depressed nasal bridge [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic failure [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Lactic acidosis [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Neurological speech impairment [HPO term]
- Open operculum [HPO term]
- Optic atrophy [HPO term]
- Pallor [HPO term]
- Polycythemia [HPO term]
- Polymicrogyria [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Relative macrocephaly [HPO term]
- Status epilepticus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Fumaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of fumarate hydratase (disorder) [SNOMED CT concept]
- Fumarase deficiency [MeSH concept]
- Fumarase deficiency [MedDRA Preferred Term]
- Fumarase deficiency (disorder) [SNOMED CT concept]

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