MCID: ALP011
MIFTS: 36

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alpha-Ketoglutarate Dehydrogenase Deficiency:

Name: Alpha-Ketoglutarate Dehydrogenase Deficiency 49 11 45 22 51 24 65
Oxoglutaricaciduria 45 51
2 Alpha Ketoglutarate Dehydrogenase Deficiency 45
2-Ketoglutarate Dehydrogenase Deficiency 22
 
Alpha Kgd Deficiency 45
Alpha-Kgd Deficiency 22
Oxoglutaric Aciduria 22

Characteristics:

Orphanet epidemiological data:

51
alpha-ketoglutarate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood

HPO:

61
alpha-ketoglutarate dehydrogenase deficiency:
Mortality/Aging: death in childhood
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 203740
Orphanet51 31
ICD10 via Orphanet28 E88.8
MESH via Orphanet37 C536582
UMLS via Orphanet66 C2752074
UMLS65 C2752074

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

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MalaCards based summary: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as oxoglutaricaciduria, is related to leigh syndrome and extrinsic cardiomyopathy, and has symptoms including cognitive impairment, short stature and skeletal muscle atrophy. An important gene associated with Alpha-Ketoglutarate Dehydrogenase Deficiency is OGDH (Oxoglutarate Dehydrogenase), and among its related pathways are Signaling by Retinoic Acid and Pyruvate metabolism. Affiliated tissues include salivary gland and skeletal muscle, and related mouse phenotype growth/size/body region.

Description from OMIM:49 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
1leigh syndrome9.8DLD, PDHA1
2extrinsic cardiomyopathy9.8DLD, PDHA1
3transsexualism9.7DLST, OGDH
4primary ciliary dyskinesia9.6DLD, OGDH
5olfactory nerve neoplasm9.5DLD, OGDH, PDHA1
6wilms tumor susceptibility-59.0DLD, DLST, OGDH, PDHA1

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



Diseases related to alpha-ketoglutarate dehydrogenase deficiency

Symptoms for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

203740

Clinical features from OMIM:

203740

Symptoms:

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

HPO human phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 short stature hallmark (90%) HP:0004322
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 incoordination hallmark (90%) HP:0002311
5 hypertonia hallmark (90%) HP:0001276
6 abnormality of movement typical (50%) HP:0100022
7 abnormality of the salivary glands typical (50%) HP:0010286
8 hydrocephalus typical (50%) HP:0000238
9 congenital lactic acidosis HP:0004902
10 increased serum lactate HP:0002151
11 metabolic acidosis HP:0001942
12 muscular hypotonia HP:0001252

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, nutraceutical8859-43-81130
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 Hydrochloride
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)
2Vitamins3857
3ThiaminNutraceutical88
4pyruvateNutraceutical30

Interventional clinical trials:

idNameStatusNCT IDPhase
1From Uncomplicated Alcoholism to Korsakoff's SyndromeRecruitingNCT01455207

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 Deficiency22 OGDH

Anatomical Context for Alpha-Ketoglutarate Dehydrogenase Deficiency

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

33
Salivary gland, Skeletal muscle

Animal Models for Alpha-Ketoglutarate Dehydrogenase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.3DLD, DLST, OGDH, PDHA1

Publications for Alpha-Ketoglutarate Dehydrogenase Deficiency

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Articles related to Alpha-Ketoglutarate Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Renin-angiotensin and kinin-bradykinin genes polymorphism effects on permanent arterial hypertension in children]. (17380887)
2007
2
The polybasic region that follows the plant homeodomain zinc finger 1 of Pf1 is necessary and sufficient for specific phosphoinositide binding. (16893883)
2006

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 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3DLD, PDHA1
2
Show member pathways
9.3DLD, PDHA1
39.1DLST, OGDH
4
Show member pathways
8.5DLD, DLST, OGDH
5
Show member pathways
8.0DLD, DLST, OGDH, PDHA1
6
Show member pathways
8.0DLD, 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

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
1myelin sheathGO:00432098.5DLD, DLST, PDHA1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of acetyl-CoA biosynthetic process from pyruvateGO:00105109.7DLD, PDHA1
2lysine catabolic processGO:00065549.5DLD, DLST
3glyoxylate metabolic processGO:00464879.2DLD, DLST
4oxidation-reduction processGO:00551149.0DLD, OGDH
5cellular metabolic processGO:00442378.6DLST, OGDH, PDHA1
6metabolic processGO:00081528.6DLST, OGDH, PDHA1

Sources for Alpha-Ketoglutarate Dehydrogenase Deficiency

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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