MCID: 2HY001
MIFTS: 28

2-Hydroxyglutaric Aciduria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for 2-Hydroxyglutaric Aciduria

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Aliases & Descriptions for 2-Hydroxyglutaric Aciduria:

Name: 2-Hydroxyglutaric Aciduria 10 45 23 12
Combined D-2- and L-2-Hydroxyglutaric Aciduria 65
 
2-Hga 23

Classifications:



External Ids:

Disease Ontology10 DOID:0050573
UMLS65 C2746066

Summaries for 2-Hydroxyglutaric Aciduria

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NIH Rare Diseases:45 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. the major types of this disorder are called d-2-hydroxyglutaric aciduria (d-2-hga), l-2-hydroxyglutaric aciduria (l-2-hga), and combined d,l-2-hydroxyglutaric aciduria (d,l-2-hga). the main features of d-2-hga vary within the different types but, in general, may include delayed development; 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. the different types and subtypes are caused by different gene mutations and are inherited in an autosomal recessive pattern, except for a d-2hga subtype, known as type ii d-2-hga, which is inherited in an autosomal dominant pattern. last updated: 7/22/2015

MalaCards based summary: 2-Hydroxyglutaric Aciduria, also known as combined d-2- and l-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria. An important gene associated with 2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways are Butanoate metabolism and Citrate cycle (TCA cycle). Affiliated tissues include brain, t cells and lung.

Disease Ontology:10 An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.

Genetics Home Reference:23 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).

Related Diseases for 2-Hydroxyglutaric Aciduria

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Diseases in the 2-Hydroxyglutaric Aciduria family:

L-2-Hydroxyglutaric Aciduria

Diseases related to 2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria28.9ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH
2l-2-hydroxyglutaric aciduria10.5
3obesity10.3
4acute lymphocytic leukemia10.3
5focal segmental glomerulosclerosis10.3
6leukemia10.3
7mycosis fungoides10.3
8spinal stenosis10.3
9hyperphosphatemia10.3
10glomerulosclerosis10.3
11nephrotic syndrome10.3
12pneumatosis cystoides intestinalis10.3
13angioid streaks10.3
14retroperitoneal fibrosis10.3
15seckel syndrome 710.2L2HGDH, SLC25A1
16mast-cell leukemia10.1ALDH5A1, L2HGDH
17paranasal sinus lymphoma10.1IDH1, IDH2
18brain oligodendroglioma10.1IDH1, IDH2
19enchondromatosis dwarfism deafness10.1IDH1, IDH2
20mixed astrocytoma-ependymoma10.0IDH1, IDH2
21congenital disorder of glycosylation, type if10.0IDH1, IDH2
22juxtacortical osteosarcoma10.0IDH1, IDH2
23diencephalic astrocytomas10.0IDH1, IDH2
24anaplastic plasmacytoma10.0IDH1, IDH2
25breast myofibroblastoma10.0IDH1, IDH2
26bone marrow cancer10.0IDH1, IDH2
27grade iii astrocytoma10.0IDH1, IDH2
28colon small cell carcinoma10.0IDH1, IDH2
29myositis ossificans10.0IDH1, IDH2
30hypoxia10.0ALDH5A1, D2HGDH
31panuveitis10.0IDH1, IDH2
32conjunctiva squamous cell carcinoma10.0IDH1, IDH2
33gastric papillary adenocarcinoma10.0IDH1, IDH2
34childhood cerebral astrocytoma10.0IDH1, IDH2
35agraphia9.9IDH1, IDH2
36hydranencephaly9.9IDH1, IDH2
37tubular adenocarcinoma9.8IDH1, IDH2
38gliomatosis peritonei9.8IDH1, IDH2
39childhood oligodendroglioma9.8IDH1, IDH2
40glioma9.6IDH1, IDH2
41hereditary lymphedema8.4ALDH5A1, D2HGDH, GCDH, IDH1, IDH2, L2HGDH

Graphical network of the top 20 diseases related to 2-Hydroxyglutaric Aciduria:



Diseases related to 2-hydroxyglutaric aciduria

Symptoms for 2-Hydroxyglutaric Aciduria

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Drugs & Therapeutics for 2-Hydroxyglutaric Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 2-Hydroxyglutaric Aciduria

Genetic Tests for 2-Hydroxyglutaric Aciduria

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Anatomical Context for 2-Hydroxyglutaric Aciduria

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MalaCards organs/tissues related to 2-Hydroxyglutaric Aciduria:

33
Brain, T cells, Lung, Temporal lobe

Animal Models for 2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for 2-Hydroxyglutaric Aciduria

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Articles related to 2-Hydroxyglutaric Aciduria:

idTitleAuthorsYear
1
An abnormal phenotype of lung VI^9VI'2 T cells impairs their responsiveness in tuberculosis patients. (23770719)
2013
2
Temporal lobe epilepsy semiology. (22957241)
2012
3
Clinical staging and disease progression in frontotemporal dementia. (20479357)
2010
4
Nutlin-3a activates p53 to both down-regulate inhibitor of growth 2 and up-regulate mir-34a, mir-34b, and mir-34c expression, and induce senescence. (18451145)
2008
5
Functionally active fusion protein of the novel composite cytokine CLC/soluble CNTF receptor. (11952795)
2002
6
Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. (11310628)
2001
7
A novel sulfonylurea receptor family member expressed in the embryonic Drosophila dorsal vessel and tracheal system. (10506204)
1999
8
Novel point mutations in the dystrophin gene. (9298822)
1997

Variations for 2-Hydroxyglutaric Aciduria

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Expression for genes affiliated with 2-Hydroxyglutaric Aciduria

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Search GEO for disease gene expression data for 2-Hydroxyglutaric Aciduria.

Pathways for genes affiliated with 2-Hydroxyglutaric Aciduria

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GO Terms for genes affiliated with 2-Hydroxyglutaric Aciduria

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Biological processes related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:00061039.8IDH1, L2HGDH
2tricarboxylic acid cycleGO:00060999.6IDH1, IDH2
3glucose metabolic processGO:00060069.5ALDH5A1, SLC25A1
4glutathione metabolic processGO:00067499.0ALDH5A1, IDH1

Molecular functions related to 2-Hydroxyglutaric Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.2D2HGDH, GCDH

Sources for 2-Hydroxyglutaric Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet