L-2-hydroxyglutaric aciduria

Preferred Label : L-2-hydroxyglutaric aciduria;

Symbol : L2HGA;

CISMeF acronym : L2HGA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : L-2-hydroxyglutaric acidemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the L-2-hydroxyglutarate dehydrogenase gene (L2HGDH, 609584.0001);

Laboratory abnormalities : Increased L-2-hydroxyglutaric acid in urine, serum, and CSF; Increased lysine in serum and CSF;

Prefixed ID : #236792;

Details

Origin ID

236792;

UMLS CUI

C1855995;

Automatic exact mappings (from CISMeF team)
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
Broader ORDO disease(s)
- 2-hydroxyglutaric aciduria [ORDO Disease]
Currated CISMeF NLP mapping
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D-2-hydroxyglutaric aciduria [HPO term]
- L 2 hydroxyglutaric aciduria [Disease (Nov.)]
- L-2-hydroxyglutaric acidemia [HPO term]
- L-2-hydroxyglutaric aciduria [DO Concept]
- L-2-hydroxyglutaric aciduria [ICD-11 More detail]
- L-2-hydroxyglutaric aciduria [HPO term]
- L-2-hydroxyglutaric aciduria [ORDO Disease]
- L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
DO Cross reference
- L-2-hydroxyglutaric aciduria [DO Concept]
Genes related to phenotype
- L-2-hydroxyglutarate dehydrogenase [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar atrophy in most cases [HPO term]
- Corpus callosum atrophy [HPO term]
- Developmental regression [HPO term]
- Dysphasia [HPO term]
- Gliosis [HPO term]
- Global brain atrophy [HPO term]
- Hearing impairment [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- L-2-hydroxyglutaric acidemia [HPO term]
- L-2-hydroxyglutaric aciduria [HPO term]
- Leukoencephalopathy [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Psychomotor regression beginning in infancy [HPO term]
- Seizure [HPO term]
- Severe demyelination of the white matter [HPO term]
- Spastic tetraparesis [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- L-2-hydroxyglutaric aciduria [ORDO Disease]
See also inter- (CISMeF)
- D 2 hydroxyglutaric aciduria [Disease (Nov.)]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- L 2 hydroxyglutaric aciduria [Disease (Nov.)]
- L-2-hydroxyglutaric aciduria [HPO term]
- L-2-hydroxyglutaric aciduria [ICD-11 More detail]
- L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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