MCID: ALP011
MIFTS: 37

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to lactic acidosis and wernicke-korsakoff syndrome, and has symptoms including movement disorder, hydrocephaly and anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct. An important gene associated with Alpha-Ketoglutarate Dehydrogenase Deficiency is OGDH (oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)), and among its related pathways are Lysine degradation and Glucose / Energy Metabolism. The compounds (S)-Succinyldihydrolipoamide and thiamine pyrophosphate have been mentioned in the context of this disorder. Affiliated tissues include salivary gland.

Description from OMIM:46 203740

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alpha-ketoglutarate dehydrogenase deficiency 42 22 46 48 60
oxoglutaricaciduria 42 48
2 alpha ketoglutarate dehydrogenase deficiency 42
alpha kgd deficiency 42


External Ids:

OMIM46 203740
MESH via Orphanet35 C536582
ICD10 via Orphanet26 E88.8
UMLS via Orphanet61 C2752074

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Alpha-Ketoglutarate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.4PDHA1, DLD
2wernicke-korsakoff syndrome10.0OGDH
3pyruvate decarboxylase deficiency10.0PDHA1
4maple syrup urine disease10.0DLD
5parkinson's disease10.0DLST, OGDH
6primary biliary cirrhosis10.0DLD, OGDH
7leigh disease10.0DLD, PDHA1
8metabolic acidosis10.0DLD, OGDH

Graphical network of diseases related to Alpha-Ketoglutarate Dehydrogenase Deficiency:



Diseases related to alpha-ketoglutarate dehydrogenase deficiency

Clinical Features for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

203740

Clinical synopsis from OMIM:

203740

Symptoms:

48 (show all 10)
  • movement disorder
  • hydrocephaly
  • anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • organic acid metabolism anomalies
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypertonia/spasticity/rigidity/stiffness
  • ataxia/incoordination/trouble of the equilibrium

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Alpha-Ketoglutarate Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Alpha-Ketoglutarate Dehydrogenase Deficiency

Search NIH Clinical Center for Alpha-Ketoglutarate Dehydrogenase Deficiency

Search CenterWatch for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic Tests for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
22GTR
See all sources

Genetic tests related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Ketoglutarate Dehydrogenase Deficiency22

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

32
Salivary gland

Animal Models for Alpha-Ketoglutarate Dehydrogenase Deficiency or affiliated genes

About this section

Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

Genetic Variations for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section

Expression for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Alpha-Ketoglutarate Dehydrogenase Deficiency.

Pathways for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
29KEGG, 4Cell Signaling Technology, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
See all sources

Compounds for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
24HMDB, 44Novoseek, 2BitterDB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1(S)-Succinyldihydrolipoamide249.8OGDH, DLST
2thiamine pyrophosphate44 2410.6PDHA1, OGDH
3thiamine44 2 11 2412.6PDHA1, OGDH
4carnitine449.4PDHA1, OGDH
52-oxo acid449.4DLD, OGDH
6alpha lipoic acid449.3DLD, OGDH
7peroxynitrite449.3OGDH, DLD
8Pyruvic acid11 2410.2DLD, PDHA1
9citrate449.2PDHA1, OGDH
10nad+449.2DLD, OGDH
11acetyl-coa44 2410.0DLD, PDHA1
12glutaryl-coa44 2410.0DLD, DLST, OGDH
13dihydrolipoamide44 2410.0OGDH, DLST, DLD
14alpha-ketoglutarate448.9DLD, DLST, OGDH
15lipoamide44 249.9DLD, PDHA1, OGDH
16carbon448.8DLD, OGDH
17Coenzyme A11 249.8DLD, PDHA1, OGDH
18carbon dioxide44 249.8OGDH, PDHA1, DLD
19nad28 249.8OGDH, PDHA1, DLD
20nadh44 11 2410.8DLD, PDHA1, OGDH
21lactate448.7OGDH, PDHA1, DLD
22oxygen44 249.5OGDH, PDHA1, DLD
23pyruvate448.3DLD, DLST, PDHA1, OGDH

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxoglutarate dehydrogenase complexGO:0452529.1OGDH, DLST
2mitochondrionGO:0057398.0DLD, DLST, PDHA1, OGDH
3mitochondrial matrixGO:0057597.9DLD, DLST, PDHA1, OGDH

Biological processes related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1generation of precursor metabolites and energyGO:0060919.4DLST, OGDH
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.1DLD, PDHA1
3glycolysisGO:0060969.0PDHA1, OGDH
4pyruvate metabolic processGO:0060909.0DLD, PDHA1
5lysine catabolic processGO:0065548.8OGDH, DLST, DLD
6cellular nitrogen compound metabolic processGO:0346418.7OGDH, DLST, DLD
7tricarboxylic acid cycleGO:0060998.2DLD, DLST, PDHA1, OGDH
8cellular metabolic processGO:0442378.1DLD, DLST, PDHA1, OGDH
9small molecule metabolic processGO:0442817.9OGDH, PDHA1, DLST, DLD

Products for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet