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L2HGA
MCID: L2H001
MIFTS: 49
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L-2-Hydroxyglutaric Aciduria (L2HGA)
Categories:
Cardiovascular diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for L-2-Hydroxyglutaric Aciduria:
Characteristics:Orphanet epidemiological data:58
l-2-hydroxyglutaric aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy; HPO:31
l-2-hydroxyglutaric aciduria:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Nephrological diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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NIH Rare Diseases :
52
L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay , seizures , speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations ) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
MalaCards based summary : L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to gliomatosis cerebri and fibrillary astrocytoma, and has symptoms including seizures, dyspnea and abnormality of extrapyramidal motor function. An important gene associated with L-2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Butanoate metabolism and Metabolism. Affiliated tissues include cerebellum, brain and breast, and related phenotypes are seizures and encephalitis Disease Ontology : 12 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). KEGG : 36 L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy. UniProtKB/Swiss-Prot : 73 L-2-hydroxyglutaric aciduria: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid.
More information from OMIM:
236792
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Human phenotypes related to L-2-Hydroxyglutaric Aciduria:58 31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:236792UMLS symptoms related to L-2-Hydroxyglutaric Aciduria:seizures, dyspnea, abnormality of extrapyramidal motor function, stridor, abnormal pyramidal signs |
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MalaCards organs/tissues related to L-2-Hydroxyglutaric Aciduria:40
Cerebellum,
Brain,
Breast,
Liver,
Cortex,
Skeletal Muscle,
Thyroid
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Articles related to L-2-Hydroxyglutaric Aciduria:(show top 50) (show all 166)
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Genes related to L-2-Hydroxyglutaric Aciduria (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for L-2-Hydroxyglutaric Aciduria:6 (show all 21)
UniProtKB/Swiss-Prot genetic disease variations for L-2-Hydroxyglutaric Aciduria:73
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Search
GEO
for disease gene expression data for L-2-Hydroxyglutaric Aciduria.
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Pathways related to L-2-Hydroxyglutaric Aciduria according to KEGG:36
Pathways related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:
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Cellular components related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:
Biological processes related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:
Molecular functions related to L-2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:
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