MCID: ALP011
MIFTS: 38

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

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

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

Aliases & Descriptions for Alpha-Ketoglutarate Dehydrogenase Deficiency:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 54 50 24 56 29 13 69
Oxoglutaricaciduria 50 56
2 Alpha Ketoglutarate Dehydrogenase Deficiency 50
2-Ketoglutarate Dehydrogenase Deficiency 24
Alpha Kgd Deficiency 50
Alpha-Kgd Deficiency 24
Oxoglutaric Aciduria 24

Characteristics:

Orphanet epidemiological data:

56
oxoglutaricaciduria
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood;

HPO:

32
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance autosomal recessive inheritance
Mortality/Aging death in childhood


Classifications:



External Ids:

OMIM 54 203740
Orphanet 56 ORPHA31
MESH via Orphanet 43 C536582
UMLS via Orphanet 70 C2752074
ICD10 via Orphanet 34 E88.8

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

MalaCards based summary : Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to lactic acidosis and mast cell neoplasm, and has symptoms including ataxia, hydrocephalus and global developmental delay. An important gene associated with Alpha-Ketoglutarate Dehydrogenase Deficiency is OGDH (Oxoglutarate Dehydrogenase), and among its related pathways/superpathways are Viral mRNA Translation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Pyruvate and Thiamine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and salivary gland, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

Description from OMIM: 203740

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 lactic acidosis 9.9
2 mast cell neoplasm 9.8 DLD PDHA1
3 gastrojejunal ulcer 9.8 DLST OGDH
4 hyperbiliverdinemia 9.4 DLD DLST OGDH PDHA1

Symptoms & Phenotypes for Alpha-Ketoglutarate Dehydrogenase Deficiency

Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Human phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
3 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
4 short stature 56 32 Very frequent (99-80%) HP:0004322
5 hypertonia 56 32 Very frequent (99-80%) HP:0001276
6 abnormality of movement 56 32 Frequent (79-30%) HP:0100022
7 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
8 abnormality of the salivary glands 56 32 Frequent (79-30%) HP:0010286
9 abnormality of krebs cycle metabolism 56 32 Very frequent (99-80%) HP:0000816
10 abnormal urine alpha-ketoglutarate concentration 56 32 Very frequent (99-80%) HP:0012401
11 muscular hypotonia 32 HP:0001252
12 increased serum lactate 32 HP:0002151
13 metabolic acidosis 32 HP:0001942
14 congenital lactic acidosis 32 HP:0004902

GenomeRNAi Phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.23 OGDH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.23 OGDH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.23 PDHA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.23 PDHA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.23 OGDH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.23 PDHA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.23 OGDH PDHA1

MGI Mouse Phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 8.92 OGDH PDHA1 DLD DLST

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

Drugs for Alpha-Ketoglutarate Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pyruvate Approved, Nutraceutical
2
Thiamine Approved, Nutraceutical, Vet_approved 59-43-8 1130
3 Vitamins
4 Thiamin Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 From Uncomplicated Alcoholism to Korsakoff's Syndrome Unknown status NCT01455207

Search NIH Clinical Center for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic Tests for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic tests related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Ketoglutarate Dehydrogenase Deficiency 29 24 OGDH

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

39
Skeletal Muscle, Salivary Gland

Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

Articles related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Title Authors Year
1
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. ( 15712224 )
2005
2
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. ( 1640293 )
1992

Variations for Alpha-Ketoglutarate Dehydrogenase Deficiency

Expression for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

Pathways for Alpha-Ketoglutarate Dehydrogenase Deficiency

Pathways related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 DLD DLST OGDH PDHA1
2
Show member pathways
12.96 DLD DLST OGDH PDHA1
3 12.05 DLST OGDH PDHA1
4
Show member pathways
11.94 DLD DLST OGDH PDHA1
5
Show member pathways
11.68 DLD DLST OGDH PDHA1
6
Show member pathways
11.64 DLD DLST OGDH
7
Show member pathways
11.47 DLD DLST OGDH PDHA1
8
Show member pathways
11.31 DLD PDHA1
9 11.25 DLST OGDH
10 11.22 DLD DLST OGDH PDHA1
11
Show member pathways
11.06 DLD PDHA1
12
Show member pathways
10.54 DLD DLST OGDH PDHA1

GO Terms for Alpha-Ketoglutarate Dehydrogenase Deficiency

Cellular components related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.62 DLD DLST OGDH PDHA1
2 myelin sheath GO:0043209 9.43 DLD DLST PDHA1
3 mitochondrial matrix GO:0005759 9.26 DLD DLST OGDH PDHA1
4 pyruvate dehydrogenase complex GO:0045254 9.16 DLD PDHA1
5 oxoglutarate dehydrogenase complex GO:0045252 8.8 DLD DLST OGDH

Biological processes related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.69 DLD OGDH PDHA1
2 metabolic process GO:0008152 9.67 DLST OGDH PDHA1
3 generation of precursor metabolites and energy GO:0006091 9.48 DLST OGDH
4 pyruvate metabolic process GO:0006090 9.46 DLD PDHA1
5 tricarboxylic acid cycle GO:0006099 9.46 DLD DLST OGDH PDHA1
6 2-oxoglutarate metabolic process GO:0006103 9.43 DLD OGDH
7 lysine catabolic process GO:0006554 9.43 DLD DLST OGDH
8 regulation of acetyl-CoA biosynthetic process from pyruvate GO:0010510 9.4 DLD PDHA1
9 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.37 DLD PDHA1
10 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.32 DLD PDHA1
11 glyoxylate metabolic process GO:0046487 9.26 DLD DLST OGDH PDHA1
12 cellular nitrogen compound metabolic process GO:0034641 8.92 DLD DLST OGDH PDHA1

Molecular functions related to Alpha-Ketoglutarate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 DLD OGDH PDHA1
2 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor GO:0016624 8.96 OGDH PDHA1
3 pyruvate dehydrogenase (NAD+) activity GO:0034604 8.62 DLD PDHA1

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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