MCID: ORG002
MIFTS: 39

Organic Acidemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Organic Acidemia

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Aliases & Descriptions for Organic Acidemia:

Name: Organic Acidemia 11 47 13
Organic Acid Metabolism Disorder 11 26
Organic Acidemias 24 67
 
Organic Aciduria 11 26
Disorder of Organic Acid Metabolism 67
Aciduria Organic 49

Classifications:



External Ids:

Disease Ontology11 DOID:0060159

Summaries for Organic Acidemia

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Disease Ontology:11 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.

MalaCards based summary: Organic Acidemia, also known as organic acid metabolism disorder, is related to maple syrup urine disease, type ii and propionicacidemia. An important gene associated with Organic Acidemia is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase), and among its related pathways are Biotin metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. Related mouse phenotype liver/biliary system.

Wikipedia:70 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Organic Acidemia

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Diseases related to Organic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1maple syrup urine disease, type ii30.9ACADM, BCKDHB, BTD, HMGCL
2propionicacidemia30.5ACADM, HLCS, HMGCL, MUT, PCCA, PCCB
3isovaleric acidemia11.0
4methylmalonic aciduria, vitamin b12-responsive10.9
52-methylbutyrylglycinuria10.8
6glutathione synthetase deficiency10.8
73-@hydroxyisobutyric aciduria10.8
83-methylglutaconic aciduria10.8
9deafness, autosomal dominant 2510.3ACADM, ACADS
10atrophic glossitis10.3ACADM, HMGCL
11adenylosuccinase lyase deficiency10.3HLCS, HMGCL
12dyskeratosis congenita, autosomal recessive 110.2ACADM, ACADS, HMGCL
13acyl-coa dehydrogenase, medium chain, deficiency of10.2ACADM, ACADS, BTD
14atrial fibrillation, familial, 410.2ACADM, BTD, HLCS
15fatal infantile encephalocardiomyopathy10.2ACADM, ACADS, HMGCL
16lichen disease10.2BTD, HLCS, PCCB
17fga-related congenital afibrinogenemia10.1ACADM, ACADS
18juvenile hereditary hemochromatosis10.0MMAB, MUT
19biotinidase deficiency10.0ACADM, BTD, HLCS, PCCB
20kidney papillary necrosis10.0BTD, HLCS
21atrioventricular block9.9BTD, HLCS, PCCA, PCCB
22fatty acid oxidation disorders9.8
23dysferlinopathy9.7MMACHC, MMADHC
24holocarboxylase synthetase deficiency9.6
25metabolic acidosis9.6
26neonatal diabetes mellitus9.6
27lactic acidosis9.6
28hypoglycemia9.6
29aminoacidopathies9.6
30hyperammonemia9.6
31mevalonic aciduria9.6
32agammaglobulinemia 29.5MMAA, MMADHC, MUT
33tyrosinemia9.5MMACHC, MMADHC, MUT
34autosomal recessive type iv ehlers-danlos syndrome8.4MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA
35body dysmorphic disorder6.8ACADM, BCKDHB, HMGCL, MMAA, MMAB, MMACHC

Graphical network of the top 20 diseases related to Organic Acidemia:



Diseases related to organic acidemia

Symptoms for Organic Acidemia

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Drugs & Therapeutics for Organic Acidemia

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Drugs for Organic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 324813422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
MetronidazoleapprovedPhase 3454443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
 
Metric
Metric 21
Metro Cream
Metro Gel
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrodzhil
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
3
Biotinapproved, nutraceuticalPhase 34358-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
4
Cyanocobalaminapproved, nutraceuticalPhase 324968-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
5Vitamin B 12Phase 3249
6Vitamin B ComplexPhase 34229
7VitaminsPhase 35095
8carnitineNutraceuticalPhase 3158
9Vitamin B7NutraceuticalPhase 343
10Vitamin B12NutraceuticalPhase 3249
11
Methylcobalaminexperimental, NutraceuticalPhase 324813422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
12
CobalaminNutraceuticalPhase 324913408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
13
OrnithineNutraceuticalPhase 2, Phase 1693184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
14Central Nervous System DepressantsPhase 112806
15AnestheticsPhase 19001
16Chelating AgentsPhase 11365
17Calcium, DietaryPhase 15525
18AnticoagulantsPhase 12516
19Dialysis SolutionsPhase 1172
20glutamineNutraceuticalPhase 1151
21CitrateNutraceuticalPhase 11106
22
Citric Acidnutraceutical, vet_approvedPhase 1110677-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
23Glutamic AcidNutraceuticalPhase 1214

Interventional clinical trials:

idNameStatusNCT IDPhase
1Carglumic Acid in Methylmalonic Acidemia and Propionic AcidemiaRecruitingNCT02426775Phase 3
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Gas Kinetics and Metabolism in Anesthesia During Non Steady StateUnknown statusNCT00225381Phase 1
4Anaplerotic Therapy in Propionic AcidemiaCompletedNCT00645879Phase 1
5Comparison of Standard Versus Low Bicarbonate HemodialysisCompletedNCT01777178Phase 1
6Comparison of High Versus Low Bicarbonate HemodialysisActive, not recruitingNCT02098356Phase 1

Search NIH Clinical Center for Organic Acidemia

Genetic Tests for Organic Acidemia

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Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Disorder of Organic Acid Metabolism26
2 Organic Aciduria26
3 Organic Acidemias24

Anatomical Context for Organic Acidemia

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Animal Models for Organic Acidemia or affiliated genes

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MGI Mouse Phenotypes related to Organic Acidemia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ACADM, ACADS, HMGCL, MUT, PCCA

Publications for Organic Acidemia

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Articles related to Organic Acidemia:

(show all 22)
idTitleAuthorsYear
1
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. (27247587)
2016
2
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. (27134976)
2016
3
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. (26725562)
2015
4
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. (23994778)
2013
5
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. (23524598)
2013
6
Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia. (23783767)
2013
7
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. (21970506)
2012
8
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. (17301002)
2007
9
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. (10785335)
2000
10
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. (10598689)
1999
11
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. (11400763)
1999
12
A case study: organic acidemia. (7823796)
1994
13
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. (7726376)
1994
14
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. (7726385)
1994
15
The Organic Acidemias: An Overview (20301313)
1993
16
Diagnosis of organic acidemia in developing countries. (1790621)
1991
17
Succinic acidemia is not a new syndrome of organic acidemia. (2387080)
1990
18
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. (3383430)
1988
19
Quick screening and diagnosis of organic acidemia by NMR urinalysis. (3981318)
1985
20
Transient hyperammonemias in infants with and without organic acidemia. (7164908)
1982
21
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (7365583)
1980
22
Short-chain organic acidemia and Reye's syndrome. (1167641)
1975

Variations for Organic Acidemia

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Expression for genes affiliated with Organic Acidemia

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Search GEO for disease gene expression data for Organic Acidemia.

Pathways for genes affiliated with Organic Acidemia

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Pathways related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.9BTD, HLCS
2
Show member pathways
9.9ACADM, ACADS
39.8BTD, MMACHC
49.4MUT, PCCA, PCCB
5
Show member pathways
9.3BCKDHB, MUT, PCCA
6
Show member pathways
8.9ACADM, ACADS, MUT, PCCA, PCCB
78.7ACADM, BCKDHB, MUT, PCCA, PCCB
8
Show member pathways
8.4ACADM, ACADS, MMAA, MUT, PCCA, PCCB
9
Show member pathways
8.2ACADM, ACADS, HMGCL, MMAA, MUT, PCCA
10
Show member pathways
8.1ACADM, ACADS, BCKDHB, HMGCL, MUT, PCCA
117.8MMAA, MMAB, MMACHC, MMADHC, MUT
12
Show member pathways
7.7MMAA, MMACHC, MMADHC, MUT, PCCA, PCCB
13
Show member pathways
6.6BTD, HLCS, MMAA, MMAB, MMACHC, MMADHC
14
Show member pathways
5.3ACADM, ACADS, BCKDHB, BTD, HLCS, HMGCL

GO Terms for genes affiliated with Organic Acidemia

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Cellular components related to Organic Acidemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057597.0ACADM, ACADS, BCKDHB, BTD, HMGCL, MMAA
2mitochondrionGO:00057395.5ACADM, ACADS, BCKDHB, HLCS, HMGCL, MMAB

Biological processes related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.4ACADM, ACADS
2lipid homeostasisGO:005508810.2ACADM, ACADS
3response to starvationGO:00425949.7ACADM, ACADS, HMGCL
4fatty acid beta-oxidationGO:00066359.6ACADM, ACADS
5biotin metabolic processGO:00067689.5BTD, HLCS, PCCA, PCCB
6cobalamin biosynthetic processGO:00092369.5MMAA, MMAB, MMACHC
7short-chain fatty acid catabolic processGO:00196269.4MMAA, MUT, PCCA, PCCB
8cobalamin metabolic processGO:00092357.8MMAA, MMAB, MMACHC, MMADHC, MUT

Molecular functions related to Organic Acidemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:000399510.2ACADM, ACADS
2biotin bindingGO:00093749.9HLCS, PCCA
3propionyl-CoA carboxylase activityGO:00046589.9PCCA, PCCB
4fatty-acyl-CoA bindingGO:00000629.7ACADM, ACADS, HMGCL
5cobalamin bindingGO:00314199.7MMACHC, MUT

Sources for Organic Acidemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet