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D2HGA1
MCID: D2H002
MIFTS: 52
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D-2-Hydroxyglutaric Aciduria 1 (D2HGA1)
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 D-2-Hydroxyglutaric Aciduria 1:
Characteristics:Orphanet epidemiological data:58
d-2-hydroxyglutaric aciduria
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) severe phenotype onset - neonate mild phenotype onset - 11-18 months HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism External Ids:
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NIH Rare Diseases :
52
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay , seizures , hypotonia , and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations ) in the D2HGDH 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 : D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria 2 and combined d-2- and l-2-hydroxyglutaric aciduria, and has symptoms including seizures, muscle weakness and dyspnea. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Glutathione metabolism. Affiliated tissues include brain, cortex and skeletal muscle, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. OMIM : 56 D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. (600721) KEGG : 36 D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported. UniProtKB/Swiss-Prot : 73 D-2-hydroxyglutaric aciduria 1: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine. |
Human phenotypes related to D-2-Hydroxyglutaric Aciduria 1:31 (show all 22)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600721UMLS symptoms related to D-2-Hydroxyglutaric Aciduria 1:seizures, muscle weakness, dyspnea, stridor GenomeRNAi Phenotypes related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:26 (show all 28)
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MalaCards organs/tissues related to D-2-Hydroxyglutaric Aciduria 1:40
Brain,
Cortex,
Skeletal Muscle,
Cerebellum,
Myeloid
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Articles related to D-2-Hydroxyglutaric Aciduria 1:(show top 50) (show all 71)
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Genes related to D-2-Hydroxyglutaric Aciduria 1 (2 elite genes):(show all 20) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for D-2-Hydroxyglutaric Aciduria 1:6 (show top 50) (show all 143)
UniProtKB/Swiss-Prot genetic disease variations for D-2-Hydroxyglutaric Aciduria 1:73
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Search
GEO
for disease gene expression data for D-2-Hydroxyglutaric Aciduria 1.
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Pathways related to D-2-Hydroxyglutaric Aciduria 1 according to KEGG:36
Pathways related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:
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Cellular components related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:
Biological processes related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:
Molecular functions related to D-2-Hydroxyglutaric Aciduria 1 according to GeneCards Suite gene sharing:
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