MCID: ALP011
MIFTS: 33

Alpha-Ketoglutarate Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

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
See all sources

Aliases & Descriptions for Alpha-Ketoglutarate Dehydrogenase Deficiency:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Alpha-Ketoglutarate Dehydrogenase Deficiency

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MalaCards based summary: Alpha-Ketoglutarate Dehydrogenase Deficiency, also known as alpha kgd deficiency, is related to lactic acidosis and primary ciliary dyskinesia, and has symptoms including hypertonia, incoordination and skeletal muscle atrophy. 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 Pyruvate metabolism. Affiliated tissues include salivary gland and skeletal muscle.

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
1lactic acidosis10.4
2primary ciliary dyskinesia9.9DLD, OGDH
3adult type testicular granulosa cell tumor9.8DLST, OGDH
4lagophthalmos9.6DLD, OGDH, PDHA1
5alpha-ketoglutarate dehydrogenase deficiency9.3DLD, 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 14)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 incoordination hallmark (90%) HP:0002311
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 short stature hallmark (90%) HP:0004322
5 cognitive impairment hallmark (90%) HP:0100543
6 hydrocephalus typical (50%) HP:0000238
7 abnormality of the salivary glands typical (50%) HP:0010286
8 abnormality of movement typical (50%) HP:0100022
9 autosomal recessive inheritance HP:0000007
10 muscular hypotonia HP:0001252
11 metabolic acidosis HP:0001942
12 increased serum lactate HP:0002151
13 death in childhood HP:0003819
14 congenital lactic acidosis HP:0004902

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, nutraceutical8259-43-81130
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)
2ThiaminNutraceutical82
3pyruvateNutraceutical27

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 24 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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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:

idSuper pathways (with members indented)ScoreTop 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
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

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:00452549.7DLD, PDHA1
2oxoglutarate dehydrogenase complexGO:00452529.4DLD, DLST, OGDH
3myelin sheathGO:00432098.4DLD, DLST, PDHA1
4mitochondrial matrixGO:00057598.0DLD, DLST, OGDH, PDHA1
5mitochondrionGO:00057397.7DLD, DLST, OGDH, PDHA1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:00061039.9DLD, DLST
2generation of precursor metabolites and energyGO:00060919.8DLST, OGDH
3regulation of acetyl-CoA biosynthetic process from pyruvateGO:00105109.8DLD, PDHA1
4acetyl-CoA biosynthetic process from pyruvateGO:00060869.8DLD, PDHA1
5glycolytic processGO:00060969.8OGDH, PDHA1
6pyruvate metabolic processGO:00060909.7DLD, PDHA1
7lysine catabolic processGO:00065549.4DLD, DLST, OGDH
8cellular nitrogen compound metabolic processGO:00346419.0DLD, DLST, OGDH
9tricarboxylic acid cycleGO:00060998.6DLD, DLST, OGDH, PDHA1
10oxidation-reduction processGO:00551148.6DLD, OGDH, PDHA1
11cellular metabolic processGO:00442378.4DLD, DLST, OGDH, PDHA1
12metabolic processGO:00081528.2DLST, OGDH, PDHA1
13small molecule metabolic processGO:00442818.1DLD, 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:00166249.1OGDH, 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