MCID: ALP011
MIFTS: 38

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

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

Aliases & Classifications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Alpha-Ketoglutarate Dehydrogenase Deficiency:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 52 48 24 54 27 12 68
Oxoglutaricaciduria 48 54
2 Alpha Ketoglutarate Dehydrogenase Deficiency 48
2-Ketoglutarate Dehydrogenase Deficiency 24
 
Alpha Kgd Deficiency 48
Alpha-Kgd Deficiency 24
Oxoglutaric Aciduria 24

Characteristics:

Orphanet epidemiological data:

54
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood

HPO:

64
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 203740
Orphanet54 ORPHA31
MESH via Orphanet40 C536582
UMLS via Orphanet69 C2752074
ICD10 via Orphanet31 E88.8

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

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MalaCards based summary: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to lactic acidosis and mast cell neoplasm, and has symptoms including Array, Array and Array. An important gene associated with Alpha-Ketoglutarate Dehydrogenase Deficiency is OGDH (Oxoglutarate Dehydrogenase), and among its related pathways are Lysine degradation and Signaling by Retinoic Acid. Affiliated tissues include salivary gland and skeletal muscle, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region.

Description from OMIM:52 203740

Related Diseases for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis9.9
2mast cell neoplasm9.8DLD, PDHA1
3gastrojejunal ulcer9.8DLST, OGDH
4hyperbiliverdinemia9.4DLD, DLST, OGDH, PDHA1

Symptoms & Phenotypes for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Human phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Frequent (79-30%) HP:0000238
2 abnormality of krebs cycle metabolism64 54 Very frequent (99-80%) HP:0000816
3 ataxia64 54 Very frequent (99-80%) HP:0001251
4 global developmental delay64 54 Very frequent (99-80%) HP:0001263
5 hypertonia64 54 Very frequent (99-80%) HP:0001276
6 skeletal muscle atrophy64 54 Very frequent (99-80%) HP:0003202
7 short stature64 54 Very frequent (99-80%) HP:0004322
8 abnormality of the salivary glands64 54 Frequent (79-30%) HP:0010286
9 abnormal urine alpha-ketoglutarate concentration64 54 Very frequent (99-80%) HP:0012401
10 abnormality of movement64 54 Frequent (79-30%) HP:0100022
11 muscular hypotonia64 HP:0001252
12 metabolic acidosis64 HP:0001942
13 increased serum lactate64 HP:0002151
14 congenital lactic acidosis64 HP:0004902

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.9OGDH, PDHA1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0DLD, DLST, OGDH, PDHA1

Drugs & Therapeutics for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Thiamineapproved, nutraceutical, vet_approved10159-43-81130
Synonyms:
100660-17-1
115461-66-0
1sbr
2-[3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-4-methyl-1,3-thiazol-3-ium-5-yl]ethanol
2-[3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-4-methyl-1,3-thiazol-3-ium-5-yl]ethanol chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydrox yethyl)-4-methylthiazolium chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-m- ethylthiazolium chloride, monohydrochloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methylthiazolium chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methylthiazolium chloride monohydrochloride
3-(4-AMINO-2-METHYL-PYRIMIDIN-5-YLMETHYL)-5-(2-HYDROXY-ETHYL)-4-METHYL-THIAZOL-3-IUM
3-(4-AMINO-2-methyl-pyrimidin-5-ylmethyl)-5-(2-hydroxy-ethyl)-4-methyl-thiazol-3-ium
3-[(4-amino-2-methyl-5-pyrimidinyl)methyl]-5-(2-hydroxyethyl)-4-methylthiazolium chloride
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium chloride
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium chloride hydrochloride
3[(4-Amino-2-methyl-5-pyrimidinyl)-methyl]-5-(2-hydroxyethyl)-4-methylthiazolium chloride
55463-15-5
57777-32-9
59-43-8
67-03-8
AC-11683
AC1L1ASK
AC1L1LOC
AC1LAODT
AC1Q4V9Q
AI3-18993
AKOS000668650
AR-1L8201
Aneurin
Aneurine
Antiberiberi factor
Apatate drape
Apate drops
B-Amin
BAS 00266240
BPBio1_000686
BSPBio_000622
Beatine
Bedome
Begiolan
Beivon
Benerva
Bequin
Berin
Betabion
Betalin S
Betaxin
Bethiamin
Bethiazine
Beuion
Bevitex
Bevitine
Bewon
Biamine
Bithiamin
Biuno
Bivatin
Bivita
C00378
C12H17N4OS
CCRIS 1906
CCRIS 5823
CHEBI:18385
CHEBI:33283
CHEBI:49105
CHEMBL1547
CHEMBL1588
CID1130
CID517305
CID6042
Cernevit-12
Chloride-hydrochloride salt of thiamine
Clotiamina
D08580
DB00152
EINECS 200-425-3
EINECS 200-641-8
Eskapen
Eskaphen
FEMA No. 3322
 
HSDB 220
Hybee
I14-14339
LS-3226
LT00233141
Lixa-beta
MLS001304099
Metabolin
MolPort-000-722-048
MolPort-001-920-086
MolPort-002-052-059
NChemBio.2007.13-comp10
NSC 36226
NSC36226
Oryzanin
Oryzanine
Prestwick0_000631
Prestwick1_000631
Prestwick2_000631
Prestwick3_000631
SBB058094
SMP1_000084
SMR000718788
SPBio_002841
ST095175
Slowten
THD
THIAMIN, VITAMIN B1
Thiadoxine
Thiamin
Thiamin dichloride
Thiaminal
Thiamine
Thiamine (INN)
Thiamine HCL
Thiamine [INN:BAN]
Thiamine chloride
Thiamine chloride hydrochloride
Thiamine dichloride
Thiamine hydrochloride [JAN]
Thiamine monochloride
Thiamine monohydrochloride
Thiamine, chloride
Thiamine, chloride, hydrochloride
Thiamine, monohydrochloride
Thiaminium
Thiaminium chloride hydrochloride
Thiaminum
Thiaminum [INN-Latin]
Thiamol
Thiavit
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-m- ethyl, chloride, monohydrochloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl- chloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl- chloride (1:1)
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl-, chloride, monohydrochloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl-chloride
Tiamidon
Tiamina
Tiamina [INN-Spanish]
Tiaminal
TimTec1_000613
Trophite
UNII-X66NSO3N35
VIB
Vetalin S
Vinothiam
Vitamin B1
Vitamin B1 (TN)
Vitamin B1 hydrochloride (VAN)
Vitaneurin
Vitaneuron
ZINC00049153
[5-[[5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium-3-yl]methyl]-2-methylpyrimidin-4-yl]azanium dichloride
bmse000274
nchembio.121-comp5
thiamin
thiamine
thiamine(1+)
thiamine(1+) ion
thiaminium
vitamin B1
vitamin b1(thiamine)
2
Pyruvateapproved, Nutraceutical44
Synonyms:
 
2-oxopropanoate
3Vitamins5282
4ThiaminNutraceutical101

Interventional clinical trials:

idNameStatusNCT IDPhase
1From Uncomplicated Alcoholism to Korsakoff's SyndromeUnknown statusNCT01455207

Search NIH Clinical Center for Alpha-Ketoglutarate Dehydrogenase Deficiency

Genetic Tests for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Genetic tests related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Ketoglutarate Dehydrogenase Deficiency27 24 OGDH

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

36
Salivary gland, Skeletal muscle

Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Articles related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

idTitleAuthorsYear
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

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Expression for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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

Pathways for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.3DLST, OGDH
2
Show member pathways
9.1DLD, PDHA1
3
Show member pathways
9.1DLD, PDHA1
4
Show member pathways
8.8DLD, DLST, OGDH
58.5DLST, OGDH, PDHA1
68.0DLD, DLST, OGDH, PDHA1
7
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
8
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
9
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
10
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
11
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
12
Show member pathways
8.0DLD, DLST, OGDH, PDHA1

GO Terms for genes affiliated with Alpha-Ketoglutarate Dehydrogenase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase complexGO:00452549.1DLD, PDHA1
2oxoglutarate dehydrogenase complexGO:00452529.0DLD, DLST, OGDH
3myelin sheathGO:00432098.8DLD, DLST, PDHA1
4mitochondrial matrixGO:00057598.7DLD, DLST, OGDH, PDHA1
5mitochondrionGO:00057398.6DLD, DLST, OGDH, PDHA1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:000610310.2DLD, OGDH
2generation of precursor metabolites and energyGO:000609110.1DLST, OGDH
3acetyl-CoA biosynthetic process from pyruvateGO:00060869.9DLD, PDHA1
4mitochondrial acetyl-CoA biosynthetic process from pyruvateGO:00617329.8DLD, PDHA1
5pyruvate metabolic processGO:00060909.6DLD, PDHA1
6regulation of acetyl-CoA biosynthetic process from pyruvateGO:00105109.5DLD, PDHA1
7lysine catabolic processGO:00065549.5DLD, DLST, OGDH
8metabolic processGO:00081529.2DLST, OGDH, PDHA1
9oxidation-reduction processGO:00551149.1DLD, OGDH, PDHA1
10cellular nitrogen compound metabolic processGO:00346418.7DLD, DLST, OGDH, PDHA1
11glyoxylate metabolic processGO:00464878.7DLD, DLST, OGDH, PDHA1
12tricarboxylic acid cycleGO:00060998.0DLD, DLST, OGDH, PDHA1

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptorGO:00166249.3OGDH, PDHA1
2pyruvate dehydrogenase (NAD+) activityGO:00346049.1DLD, PDHA1
3oxidoreductase activityGO:00164918.9DLD, OGDH, PDHA1

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet