MCID: CRN239
MIFTS: 53

Carnitine Deficiency, Systemic Primary malady

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

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

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Aliases & Descriptions for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 50 12
Systemic Primary Carnitine Deficiency 22 46 23 52 68
Carnitine Uptake Defect 11 22 46 23 24
Renal Carnitine Transport Defect 11 24 25 66
Carnitine Transporter Deficiency 11 46 24
Systemic Carnitine Deficiency 23 24 37
Primary Carnitine Deficiency 11 46 24
Carnitine Uptake Deficiency 46 24 52
Cdsp 22 52 68
 
Cud 22 24 52
Deficiency of Plasma-Membrane Carnitine Transporter 11 52
Systemic Primary Carnitine Deficiency Disease 11 13
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 46
Carnitine Plasma-Membrane Transporter Deficiency 46
Carnitine Deficiency, Primary 48
Carnitine Transporter Defect 52
Spcd 52

Characteristics:

Orphanet epidemiological data:

52
systemic primary carnitine deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Japan),1-9/1000000 (Australia),6-9/10000 (Faroe Islands),>1/1000 (Faroe Islands); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
carnitine deficiency, systemic primary:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 212140
Disease Ontology11 DOID:14365
ICD9CM30 277.81, 277.82
MeSH37 C536778
SNOMED-CT60 21764004
NCIt43 C98864
Orphanet52 ORPHA158
ICD10 via Orphanet29 E71.3
MedGen35 C0342788

Summaries for Carnitine Deficiency, Systemic Primary

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OMIM:50 Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in... (212140) more...

MalaCards based summary: Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to atrophic glossitis and dilated cardiomyopathy, and has symptoms including hepatomegaly, hepatomegaly and muscle weakness. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Mitochondrial Fatty Acid Beta-Oxidation. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:11 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

NIH Rare Diseases:46 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). the nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. some individuals may only have fatigability in adulthood, or no symptoms at all. this condition is caused by mutations in the slc22a5 gene and is inherited in an autosomal recessive manner. treatment and prevention of symptoms typically includes oral l-carnitine supplementation. last updated: 7/9/2012

UniProtKB/Swiss-Prot:68 Systemic primary carnitine deficiency: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.

Genetics Home Reference:24 Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.

Wikipedia:69 Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine... more...

GeneReviews summary for NBK84551

Related Diseases for Carnitine Deficiency, Systemic Primary

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Graphical network of the top 20 diseases related to Carnitine Deficiency, Systemic Primary:



Diseases related to carnitine deficiency, systemic primary

Symptoms for Carnitine Deficiency, Systemic Primary

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Symptoms by clinical synopsis from OMIM:

212140

Clinical features from OMIM:

212140

HPO human phenotypes related to Carnitine Deficiency, Systemic Primary:

(show all 23)
id Description Frequency HPO Source Accession
1 muscular hypotonia HP:0001252
2 lethargy HP:0001254
3 coma HP:0001259
4 somnolence HP:0001262
5 confusion HP:0001289
6 encephalopathy HP:0001298
7 muscle weakness HP:0001324
8 hepatic steatosis HP:0001397
9 failure to thrive HP:0001508
10 congestive heart failure HP:0001635
11 hypertrophic cardiomyopathy HP:0001639
12 cardiomegaly HP:0001640
13 endocardial fibroelastosis HP:0001706
14 hyperammonemia HP:0001987
15 recurrent hypoglycemia HP:0001988
16 vomiting HP:0002013
17 hepatomegaly HP:0002240
18 elevated hepatic transaminases HP:0002910
19 myopathy HP:0003198
20 decreased plasma carnitine HP:0003234
21 impaired gluconeogenesis HP:0005959
22 reduced muscle carnitine level HP:0030362
23 decreased carnitine level in liver HP:0045061

UMLS symptoms related to Carnitine Deficiency, Systemic Primary:


hepatomegaly, muscle weakness

Drugs & Therapeutics for Carnitine Deficiency, Systemic Primary

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Drugs for Carnitine Deficiency, Systemic Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
StavudinePhase 4, Phase 21723056-17-518283
Synonyms:
1-(2,3-Dideoxy-beta-D-glycero-2-pentenofuranosyl)thymine
1-(2,3-Dideoxy-beta-D-glycero-pent-2-enofuranosyl)thymine
1-[(2R,5S)-5-(hydroxymethyl)-2,5-dihydrofuran-2-yl]-5-methylpyrimidine-2,4(1H,3H)-dione
1-[(2R,5S)-5-(hydroxymethyl)-2,5-dihydrofuran-2-yl]-5-methylpyrimidine-2,4-dione
1-[5-(hydroxymethyl)-2,5-dihydro-2-furanyl]-5-methyl-2,4(1H,3H)-pyrimidinedione & Colony-stimulating factor 2
132425-31-1
2',3' Didehydro 3' deoxythymidine
2',3'-Anhydrothymidine
2',3'-DIDEHYDRO-3'-DEOXYTHYMIDINE (DDI)
2',3'-Didehydro-2',3'-dideoxythmidine
2',3'-Didehydro-3'-deoxythimidine
2',3'-Didehydro-3'-deoxythymidine
3'- Azido-3'-deoxythymidine & Granulocyte-macrophage colony-stimulating factor
3'-Deoxy-2',3'-didehydrothymidine
3'-Deoxy-2'-thymidinene
3056-17-5
AC-5263
AC1L2BQ9
AC1Q6BSH
BB_NC-1008
BIDD:GT0082
BMY 27857
BMY-27857
BMY27857
BRN 0618327
Bristol-Myers Brand of Stavudine
Bristol-Myers Squibb Brand of Stavudine
C07312
CHEBI:207119
CHEMBL991
CID18283
CPD000058350
CPD000673569
D 1413
D 4T
D 4T (nucleoside)
D00445
D018119
D1413_SIGMA
D3580
D4T & GM-CSF
D4TMBY-27857-3
DB00649
Dideoxydidehydrothymidine
EU-0100336
Estavudina
Estavudina [INN-Spanish]
FT-0082665
 
HMS2051O20
HSDB 7338
LS-1160
Lopac0_000336
MLS000028546
MLS000759504
MLS001055348
MLS001077292
MolPort-002-507-283
NCGC00023212-03
NCGC00023212-04
NCGC00023212-05
NCGC00023212-07
NCGC00023212-08
NCGC00023212-09
NCGC00023212-10
NSC 163661
NSC163661
SAM001246729
SAM002589948
SMR000058350
SMR000673569
STK801888
STV
Sanilvudine
Sanilvudine (JAN)
Stavudin
Stavudine
Stavudine (USAN/INN)
Stavudine [USAN:BAN:INN]
Stavudine [USAN:INN:BAN]
Stavudine [Usan:Ban:Inn]
Stavudine, Monosodium Salt
Stavudinum
Stavudinum [INN-Latin]
Thymine, 1-(2,3-dideoxy-beta-D-glycero-pent-2-enofuranosyl)- (7CI,8CI)
UNII-BO9LE4QFZF
ZINC00137884
Zent
Zerit
Zerit (TN)
Zerit XR
Zerit Xr
Zerit(TM)
Zerut XR
d4T
ddeThd
ddeTyd
sanilvudine
stavudine
2
ThiamineNutraceuticalPhase 49559-43-81130
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)
3carnitineNutraceuticalPhase 4, Phase 3, Phase 2152
4GinsengNutraceuticalPhase 49050647-08-0
5
RiboflavinNutraceuticalPhase 415883-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
6FolateNutraceuticalPhase 4, Phase 24143
7
Folic AcidNutraceuticalPhase 4, Phase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
8
BezafibratePhase 3, Phase 21241859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
9Epoetin alfaPhase 3638113427-24-0
10
Valproic AcidPhase 331899-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
11
SaquinavirPhase 289127779-20-860787
Synonyms:
(2S)-N-[(2S,3R)-4-[(3S,4aS,8aS)-3-(tert-butylcarbamoyl)-3,4,4a,5,6,7,8,8a-octahydro-1H-isoquinolin-2-yl]-3-hydroxy-1-phenylbutan-2-yl]-2-(quinoline-2-carbonylamino)butanediamide
(2s)-N-[(2s,3r)-4-[(2s,3s,4as,8as)-3-(Tert-Butylcarbamoyl)-3,4,4a,5,6,7,8,8a-Octahydro-1h-Isoquinolin-2-Yl]-3-Hydroxy-1-Phenyl-Butan-2-Yl]-2-(Quinolin-2-Ylcarbonylamino)butanediamide
127779-20-8
1hxb
2fgu
2fgv
AB00514056
AC-16711
AC1L9ATC
AKOS000280831
Ambap127779-20-8
BIDD:GT0323
BIDD:PXR0010
BPBio1_001373
BRD-K09963420-066-03-4
BSPBio_001248
CHEBI:45279
CHEMBL114
CID441243
CIS-N-TERT-BUTYL-DECAHYDRO-2-[2(R)-HYDROXY-4-PHENYL-3(S)-[[N-2-QUINOLYLCARBONYL-L-ASPARAGINYL]AMINO]BUTYL]-(4AS)-ISOQUINOLINE-3(S)-CARBOXAMIDE
D00429
Fortovase
Fortovase (TN)
 
Fortovase(TM)
Invirase
Invirase(TM)(monomesylate)
LS-187081
MLS001195635
MLS001304735
MolPort-000-883-824
NCGC00091469-02
NSC722663
Prestwick0_001114
Prestwick1_001114
Prestwick2_001114
Prestwick3_001114
QNC-ASN-HPH-DIQ-NTB
ROC
Ro 31-8959
Ro 318959
Ro-31-8959
SAQUINAVIR
SMR000469157
SPBio_003114
SQV
Saquinavir (JAN/USP/INN)
Saquinavir Mesylate
saguinavir
12
RitonavirPhase 2856155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
13
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
14
ZalcitabinePhase 2457481-89-224066
Synonyms:
.beta.-D-2',3'-Dideoxycytidine
.beta.-D-2',3'-Dideoxycytidine & Granulocyte-macrophage colony-stimulating factor
.beta.-D-DDC
1-(2,3-Dideoxy-beta-D-ribofuranosyl)cytosine
16803P
2',3'-DIDEOXYCYTIDINE
2',3'-Dideoxycytidine
2',3'-Dideoxycytidine & Interferon.alpha.
2',3'-Dideoxycytidine & Nanoparticles (from human serum albumin or polyhexylcyanoacrylate)
2',3'-Dideoxycytidine & sCD4(soluble recombinant protein)
2,3-dideoxycytidine
3'-Azido-3'-deoxythymidine/2',3'-Dideoxycytidine
36775_FLUKA
4-amino-1-[(2R,5S)-5-(Hydroxymethyl)tetrahydrofuran-2-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-[(2R,5S)-5-(hydroxymethyl)tetrahydrofuran-2-yl]pyrimidin-2(1H)-one
5-25-14-00313 (Beilstein Handbook Reference)
7481-89-2
AC-824
AC1L2N6R
BPBio1_001378
BRN 0654956
BSPBio_001253
C07207
C9H13N3O3
CCRIS 692
CHEBI:10101
CHEMBL853
CID24066
CPD000058253
Cytidine, 2',3'-dideoxy- & Colony-stimulating factor
Cytidine, 2',3'-dideoxy- & Interferon.alpha.
D 5782
D00412
D3581
D5782_SIGMA
DB00943
DDC
DDC (DDC)
DDCYD
DS-4152 & ddC
Dideoxycytidine
EU-0100360
HIVID
HMS1548B19
HMS1571O15
HMS2051H18
HMS2090C12
HSDB 7156
Hivid (TN)
Hivid(TM)
 
Hivid, Dideoxycytidine, NSC 606170, Zalcitabine
Interferon AD + ddC
KS-1130
LS-1645
Lecithinized superoxide dismutase & .beta.-D-2',3'-Dideoxycytidine
Lopac0_000360
MLS000069636
MLS000759540
MLS001055363
MLS001424210
MolPort-002-885-873
NCGC00090705-01
NCGC00090705-02
NCGC00090705-03
NCGC00090705-05
NCGC00090705-06
NCGC00090705-07
NCGC00090705-10
NCGC00179242-01
NSC 606170
NSC-606170
NSC606170
PC-SOD & ddC
Prestwick0_001037
Prestwick1_001037
Prestwick2_001037
Prestwick3_001037
Ro 24-2027/000
Ro-24-2027/000
S1719_Selleck
SAM001246779
SMR000058253
SPBio_003104
SRI-7707
Sulfated polysaccharide-peptidoglycan DS-4152 & 2',3'-Dideoxycytidine
TimTec1_004969
UNII-6L3XT8CB3I
UPCMLD-DP115
UPCMLD-DP115:001
ZINC00039906
Zalcitabine (JAN/USP/INN)
Zalcitabine [USAN:INN:BAN]
Zalcitibine
bmse000712
ddC
ddC & GM-CSF
ddC & IFN.alpha.
ddC & Interferon.alpha.
ddC & NP (from PHCA or HSA)
ddC & sCD4
ddC (Antiviral)
ddCyd
zalcitabine
15
GlycerolPhase 221056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
16
ZidovudinePhase 249530516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
17
EfavirenzPhase 2404154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
18ADEFOVIRPhase 2132
19
Adefovir DipivoxilPhase 2132142340-99-660871
Synonyms:
(((2-(6-Amino-9H-purin-9-yl)ethoxy)methyl)phosphinylidene)bis(oxymethylene) 2,2-dimethylpropanoate
((2-(6-Amino-9H-purin-9-yl)ethoxy)methyl)phosphonic acid, diester with hydroxymethyl pivalate
142340-99-6
9-(2-((-Bis((pivaloyloxy)methoxy)phosphinyl)methoxy)ethyl)adenine
9-(2-((Bis((pivaloyloxy)methoxy)phosphinyl)methoxy)ethyl)adenine
AC-1693
AC1L1U36
ADEFOVIR DIPIVOXIL
ADV
AKOS005145737
Adefovir
Adefovir Pivoxil
Adefovir dipivoxil (USAN)
Adefovir pivoxil
Adefovir pivoxil (JAN)
Adefovirdipivoxl
Adefovirum
Adéfovir
Ambap142340-99-6
Bis(POM)-PMEA
Bis(pivaloyloxymethyl)-9-(2-phosphonylmethoxyethyl)adenine
Bis(pom)PMEA
Bis-POM PMEA
Bis-POM PMEA, Adefovir Dipivoxil
Bis-POM PMEA, Preveon, Hepsera, Adefovir Dipivoxil
C20H32N5O8P
CHEMBL922
 
CID60871
D01655
DB00718
FT-0082875
GS 0840
GS 840
GS-0840
GS-840
Hepsera
Hepsera (TM)
Hepsera (TN)
I06-1150
I14-3234
LS-173141
MolPort-003-986-417
NCGC00164624-01
PMEA
Piv2PMEA
Preveon
Propanoic acid, 2,2-dimethyl-, (((2-(6-amino-9H-purin-9-yl)ethoxy)methyl)phosphinylidene)bis(oxymethylene) ester
Propanoic acid,2,2-dimethyl-(((2-(6-amino-9H-purin-9-yl)ehtoxy)mehtyl)phosphinyldiene)bis(oxymehtylene)ester
S1718_Selleck
TL8000938
UNII-U6Q8Z01514
YouHeDing
ZINC03930376
[2-(6-aminopurin-9-yl)ethoxymethyl-(2,2-dimethylpropanoyloxymethoxy)phosphoryl]oxymethyl 2,2-dimethylpropanoate
adefovir depivoxil
bis-POM PMEA
20
DidanosinePhase 215069655-05-650599
Synonyms:
149409-57-4
2',3'-Dideoxyinosine
2',3'-Dideoxyinosine & Granulocyte-macrophage colony-stimulating factor
2',3'-Dideoxyinosine & Interferon-.alpha.
2',3'-Dideoxyinosine & sCD4(soluble recombinant protein)
2',3'-Dideoxyinosine (AIDS Initiative)
2',3'-Dideoxyinosine (ddI)
2',3'-dideoxyinosine, DDI, NSC 612049, Didanosine
2'3'-DIDEOXYINOSINE
2,3-Dideoxyinosine
2,3-dideoxyinosine
2DI
3'-Azido-3'-deoxythymidine + 2',3'-Dideoxyinosine
69655-05-6
9-((2R,5S)-5-(Hydroxymethyl)-tetrahydrofuran-2-yl)-1H-purin-6(9H)-one
9-((2R,5S)-5-(hydroxymethyl)-tetrahydrofuran-2-yl)-1H-purin-6(9H)-one
9-((2R,5S)-5-Hydroxymethyl-tetrahydro-furan-2-yl)-1,9-dihydro-purin-6-one
9-((2S,5R)-5-Hydroxymethyl-tetrahydro-furan-2-yl)-9H-purin-6-ol
9-(2,3-Dideoxy-beta-D-ribofuranosyl)-6-oxopurine
9-(2,3-Dideoxy-beta-D-ribofuranosyl)hypoxanthine
9-[(2R,5R)-5-(HYDROXYMETHYL)TETRAHYDROFURAN-2-YL]-1,9-DIHYDRO-6H-PURIN-6-ONE
9-[(2R,5S)-5-(Hydroxymethyl)tetrahydrofuran-2-yl]-1,9-dihydro-6H-purin-6-one
9-[(2R,5S)-5-(hydroxymethyl)oxolan-2-yl]-3H-purin-6-one
9-[(2R,5S)-5-(hydroxymethyl)tetrahydrofuran-2-yl]-1,9-dihydro-6H-purin-6-one
AC-12026
AC1L19ET
AC1L3OPK
BMY 40900
BMY-40900
BRN 3619529
Benzeneethanamine, 4-methoxy-3-(2-phenylethoxy)-N,N-dipropyl-, hydrochloride
Bio-0685
C06953
C083832
CCRIS 805
CHEBI:490877
CHEMBL1460
CID119381
CID50599
CPD000058576
D00296
D2I
D3066
DB00900
DB02392
DDI
DDI and rIFN.alpha.2
DIDEOXYINOSINE
DRG-0016
DS-4152 & ddI
DdIno
Didanosina
 
Didanosina [INN-Spanish]
Didanosine
Didanosine (JAN/USAN/INN)
Didanosine and Interferon-.alpha.-2
Didanosinum
Didanosinum [INN-Latin]
Dideoxyinosine
Dideoxyinosine (DDI)
FT-0082664
HMS2051J11
HMS2089N20
HSDB 6548
Hypoxanthine ddN
Inosine, 2',3'-dideoxy- & Recombinant Interferon-.alpha.-2
Intron A & Videx
KS-1049
LOA & ddI
Listera ovata agglutinin & 2',3'-Dideoxyinosine
MLS000759469
MLS001055350
MLS001424118
MLS002154216
MolPort-002-507-371
MolPort-002-885-819
N,N-Dipropyl-2-(4-methoxy-3-(2-phenylethoxy)phenyl)ethylamine monohydrochloride
N,N-diethyl-2-(4-methoxy-3-phenethyloxyphenyl)ethanamine hydrochloride
NCGC00090691-01
NCGC00159514-02
NCGC00159514-03
NCGC00164280-01
NE 100
NE-100
NSC 612049
NSC-612049
NSC612049
PC-SOD+ddI
S1702_Selleck
SAM001246673
SMR000058576
Sulfated polysaccharide-peptidoglycan DS-4152 & 2',3'-Dideoxyinosine
UNII-K3GDH6OH08
Videx
Videx (TN)
Videx EC
Videx EC(TM)(slow-release capsules)
Videx(TM)
ZINC13597823
ddI & GM-CSF
ddI & IFN-.alpha.
ddI & sCD4(rsCD4)
ddI + d4T combination
ddIno
didanosine
21
LamivudinePhase 2605134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
22
NelfinavirPhase 2137159989-64-764143
Synonyms:
(3S,4aS,8aS)-N-tert-butyl-2-[(2R,3R)-2-hydroxy-3-[(3-hydroxy-2-methylbenzoyl)amino]-4-phenylsulfanylbutyl]-3,4,4a,5,6,7,8,8a-octahydro-1H-isoquinoline-3-carboxamide
(3S-(2(2S*,3S*),3alpha,4abeta,8abeta))-N-(1,1-Dimethylethyl)decahydro-2-(2-hydroxy-3-((3-hydroxy-2-methylbenzoyl)amino)-4-(phenylthio)butyl)-3-isoquinolinecarboxamide
159989-64-7
159989-65-8 (monomethane sulfonate (salt))
1UN
1ohr
2-[2-HYDROXY-3-(3-HYDROXY-2-METHYL-BENZOYLAMINO)-4-PHENYL SULFANYL-BUTYL]-DECAHYDRO-ISOQUINOLINE-3-CARBOXYLIC ACID TERT-BUTYLAMIDE
AC-20032
AC1L20J6
AG 1343
AG1343
AG1343 (*Mesylate salt*)
AG1346
AKOS000280862
BIDD:GT0395
BIDD:PXR0143
C07257
C32H45N3O4S
CHEMBL584
CID64143
D08259
DB00220
LS-85417
MLS001195634
 
MLS001304729
Met-SDF-1.beta. & Nelfinavir
Met-Stromal Cell-derived Factor-1.beta. (Human) & Nelfinavir
MolPort-000-883-833
MolPort-002-885-844
NCGC00090782-03
NCGC00090782-04
NELFINAVIR MESYLATE AG1343
NFV
NLF
NSC722664
NSC747167
Nelfinavir
Nelfinavir (INN)
Nelfinavir Monomethane Sulfonate
Nelfinavir [BAN:INN]
Nelfinavir [INN:BAN]
Nelfinavir mesylate
SMR000596515
UNII-HO3OGH5D7I
VRX496
Viracept
Viracept (TM)(*Mesylate salt*)
Viracept (TN)
ag1343
nelfinavir
23
AcetylcarnitinePhase 2413040-38-81
Synonyms:
(+-)-Acetylcarnitine
(-)-Acetylcarnitine
(R)-Acetylcarnitine
ALCAR
Acetyl-L-(-)-carnitine
Acetyl-L-carnitine
Acetyl-carnitine
Acetylcarnitine
 
L-Acetylcarnitine
L-Carnitine acetyl ester
L-O-Acetylcarnitine
Levocarnitine acetyl
Nicetile
O-Acetyl-L-carnitine
O-Acetylcarnitine
O-acetyl-L-carnitine
acetyl-L-carnitine
24ferric gluconate19
25
Iron10807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
26methionineNutraceutical76
27lysineNutraceutical81
28pyruvateNutraceutical34

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1Lactate Metabolism Study in HIV Infected PersonsCompletedNCT00202228Phase 4
2Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical StudyCompletedNCT02204826Phase 4
3Effect of Carnitine Deficiency on Myocardial Function in Children Receiving Continuous Renal Replacement TherapyRecruitingNCT01941823Phase 4
4Identification of Carnitine-Responsive CardiomyopathyNot yet recruitingNCT01904396Phase 4
5Levocarnitine in Treating Fatigue in Cancer PatientsCompletedNCT00091169Phase 3
6Early Administration of L-carnitine in Hemodialysis PatientsCompletedNCT00322322Phase 3
7Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm InfantsRecruitingNCT01783041Phase 2, Phase 3
8Bezafibrate Trial in CPT2 DeficiencyRecruitingNCT00336167Phase 3
9Valproate and Levocarnitine in Children With Spinal Muscular AtrophyRecruitingNCT01671384Phase 3
10L-Carnitine to Treat Fatigue in AIDS PatientsCompletedNCT00079599Phase 2
11Developmental Study on Fatigue in CancerCompletedNCT00034450Phase 2
12Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
13The Effectiveness of Nelfinavir and Efavirenz, Used Alone or Together, Combined With Other Anti-HIV Drugs in Patients Who Have Taken Anti-HIV DrugsCompletedNCT00001087Phase 2
14Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
15ALCAR Prophylaxis StudyActive, not recruitingNCT00225160Phase 2
16Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter DeficiencyCompletedNCT02226419
17Carnitine Levels and Carnitine Supplementation in Type I DiabetesCompletedNCT00351234
18Influence of OCTN2 Variants on Carnitine Status and Plasma TriglyceridesCompletedNCT00187733
19Effects of Parenteral L-carnitine Supplementation in Premature NeonatesCompletedNCT00841295
20Metabolic Consequences of CPT-1 DeficiencyCompletedNCT00653666
21Effects of L-Carnitine on Postprandial Clearance of Triglyceride-rich Lipoproteins in HIV Patients on HAARTCompletedNCT00386971
22Prevalence of Fatigue in Hemodialysis PatientsCompletedNCT01846754
23Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
24Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeRecruitingNCT02312414
25Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304
26Effects of Mixed Exercise Regime and L-Carnitine Supplementation in HIV Patients on HAARTWithdrawnNCT00572429

Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary


Cochrane evidence based reviews: systemic carnitine deficiency

Genetic Tests for Carnitine Deficiency, Systemic Primary

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Genetic tests related to Carnitine Deficiency, Systemic Primary:

id Genetic test Affiliating Genes
1 Renal Carnitine Transport Defect25
2 Systemic Primary Carnitine Deficiency23 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

About this section

MalaCards organs/tissues related to Carnitine Deficiency, Systemic Primary:

34
Liver, Heart, Kidney, Skeletal muscle, Brain

Animal Models for Carnitine Deficiency, Systemic Primary or affiliated genes

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MGI Mouse Phenotypes related to Carnitine Deficiency, Systemic Primary:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9ACADM, ACADVL, SCD, SLC22A5
2MP:00053766.9ACADM, ACADVL, CPT2, SCD, SLC22A2, SLC22A5

Publications for Carnitine Deficiency, Systemic Primary

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Variations for Carnitine Deficiency, Systemic Primary

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UniProtKB/Swiss-Prot genetic disease variations for Carnitine Deficiency, Systemic Primary:

68 (show all 49)
id Symbol AA change Variation ID SNP ID
1SLC22A5p.Arg169GlnVAR_009252rs121908889
2SLC22A5p.Tyr211CysVAR_009253rs121908888
3SLC22A5p.Trp283ArgVAR_009254rs72552729
4SLC22A5p.Val446PheVAR_009255rs72552733
5SLC22A5p.Glu452LysVAR_009256rs72552734
6SLC22A5p.Pro478LeuVAR_009257rs72552735
7SLC22A5p.Phe17LeuVAR_020347rs11568520
8SLC22A5p.Met179LeuVAR_022564rs386134196
9SLC22A5p.Trp283CysVAR_022565rs386134211
10SLC22A5p.Ser467CysVAR_022566rs60376624
11SLC22A5p.Tyr449AspVAR_029315rs11568514
12SLC22A5p.Gly12SerVAR_064109rs139203363
13SLC22A5p.Gly15TrpVAR_064110rs267607052
14SLC22A5p.Arg19ProVAR_064111rs72552723
15SLC22A5p.Asn32SerVAR_064112rs72552725
16SLC22A5p.Pro46SerVAR_064113rs202088921
17SLC22A5p.Arg83LeuVAR_064116rs72552726
18SLC22A5p.Asp122TyrVAR_064118rs201082652
19SLC22A5p.Ala142SerVAR_064120rs151231558
20SLC22A5p.Arg169TrpVAR_064122rs121908890
21SLC22A5p.Leu186ProVAR_064124rs386134197
22SLC22A5p.Ala214ValVAR_064125rs386134199
23SLC22A5p.Arg227HisVAR_064126rs185551386
24SLC22A5p.Thr232MetVAR_064128rs114269482
25SLC22A5p.Gly234ArgVAR_064129
26SLC22A5p.Gly242ValVAR_064131rs72552728
27SLC22A5p.Arg257TrpVAR_064132rs386134203
28SLC22A5p.Thr264ArgVAR_064133rs201262157
29SLC22A5p.Arg282GlnVAR_064134rs386134210
30SLC22A5p.Ala301AspVAR_064135rs72552730
31SLC22A5p.Trp351ArgVAR_064137rs68018207
32SLC22A5p.Ser355LeuVAR_064138
33SLC22A5p.Ser362LeuVAR_064140
34SLC22A5p.Pro398LeuVAR_064141rs144547521
35SLC22A5p.Arg399GlnVAR_064142rs121908891
36SLC22A5p.Arg399TrpVAR_064143rs267607054
37SLC22A5p.Thr440MetVAR_064144rs72552732
38SLC22A5p.Ala442IleVAR_064145rs267607053
39SLC22A5p.Phe443ValVAR_064146
40SLC22A5p.Tyr447CysVAR_064147rs386134218
41SLC22A5p.Pro455ArgVAR_064148
42SLC22A5p.Thr468ArgVAR_064149rs386134221
43SLC22A5p.Arg471CysVAR_064150rs749282641
44SLC22A5p.Arg488CysVAR_064151rs377216516
45SLC22A5p.Leu507SerVAR_064152
46SLC22A5p.Ser26AsnVAR_066843rs772578415
47SLC22A5p.Ser280PheVAR_066844rs386134208
48SLC22A5p.Arg471ProVAR_066845
49SLC22A5p.Arg488HisVAR_066846rs28383481

Clinvar genetic disease variations for Carnitine Deficiency, Systemic Primary:

5 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC22A5NM_003060.3(SLC22A5): c.394-2A> Csingle nucleotide variantPathogenicrs377724489GRCh37Chr 5, 131714068: 131714068
2SLC22A5NM_003060.3(SLC22A5): c.136C> T (p.Pro46Ser)single nucleotide variantPathogenicrs202088921GRCh37Chr 5, 131705800: 131705800
3SLC22A5NM_003060.3(SLC22A5): c.1365dupC (p.Thr456Hisfs)duplicationPathogenicrs878853248GRCh37Chr 5, 131728222: 131728222
4SLC22A5NM_003060.3(SLC22A5): c.659A> T (p.Glu220Val)single nucleotide variantLikely pathogenicrs878853249GRCh37Chr 5, 131721026: 131721026
5SLC22A5NM_003060.3(SLC22A5): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs139203363GRCh37Chr 5, 131705698: 131705698
6SLC22A5NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu)single nucleotide variantPathogenicrs11568520GRCh37Chr 5, 131705715: 131705715
7SLC22A5NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu)single nucleotide variantPathogenicrs72552726GRCh37Chr 5, 131705912: 131705912
8SLC22A5NM_003060.3(SLC22A5): c.364G> T (p.Asp122Tyr)single nucleotide variantPathogenicrs201082652GRCh37Chr 5, 131706028: 131706028
9SLC22A5NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser)single nucleotide variantPathogenicrs151231558GRCh37Chr 5, 131714100: 131714100
10SLC22A5NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs)deletionLikely pathogenic, Pathogenicrs386134195GRCh37Chr 5, 131714134: 131714135
11SLC22A5NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met)single nucleotide variantPathogenicrs114269482GRCh37Chr 5, 131721062: 131721062
12SLC22A5NM_003060.3(SLC22A5): c.769C> T (p.Arg257Trp)single nucleotide variantPathogenicrs386134203GRCh37Chr 5, 131721136: 131721136
13SLC22A5NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs386134210GRCh37Chr 5, 131722737: 131722737
14SLC22A5NM_003060.3(SLC22A5): c.865C> T (p.Arg289Ter)single nucleotide variantPathogenicrs386134212GRCh37Chr 5, 131722757: 131722757
15SLC22A5NM_003060.3(SLC22A5): c.1181_1183delTGC (p.Leu394del)deletionLikely pathogenicrs386134215GRCh37Chr 5, 131726510: 131726512
16SLC22A5NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu)single nucleotide variantLikely pathogenic, Pathogenicrs144547521GRCh37Chr 5, 131726522: 131726522
17SLC22A5NM_003060.3(SLC22A5): c.1319C> T (p.Thr440Met)single nucleotide variantPathogenicrs72552732GRCh37Chr 5, 131728176: 131728176
18SLC22A5NM_003060.3(SLC22A5): c.1340A> G (p.Tyr447Cys)single nucleotide variantLikely pathogenicrs386134218GRCh37Chr 5, 131728197: 131728197
19SLC22A5NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys)single nucleotide variantPathogenicrs60376624GRCh37Chr 5, 131728257: 131728257
20SLC22A5NM_003060.3(SLC22A5): c.1403C> G (p.Thr468Arg)single nucleotide variantLikely pathogenicrs386134221GRCh37Chr 5, 131728260: 131728260
21SLC22A5NM_003060.3(SLC22A5): c.1556_1559dupACAC (p.Ile521Hisfs)duplicationLikely pathogenicrs386134225GRCh37Chr 5, 131729473: 131729476
22SLC22A5NM_003060.3(SLC22A5): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs386134199GRCh37Chr 5, 131719982: 131719982
23SLC22A5NM_003060.3(SLC22A5): c.254_264dupGGCTCGCCACC (p.Ile89Glyfs)duplicationPathogenicrs377767449GRCh37Chr 5, 131705918: 131705928
24SLC22A5NM_003060.3(SLC22A5): c.1463G> A (p.Arg488His)single nucleotide variantPathogenicrs28383481GRCh37Chr 5, 131729380: 131729380
25SLC22A5SLC22A5, 113-BP DELdeletionPathogenic
26SLC22A5SLC22A5, 1-BP INS, 226CinsertionPathogenic
27SLC22A5NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter)single nucleotide variantLikely pathogenic, Pathogenicrs72552727GRCh37Chr 5, 131714072: 131714072
28SLC22A5SLC22A5, IVS8AS, G-A, -1single nucleotide variantPathogenic
29SLC22A5SLC22A5, 1394-BP DELdeletionPathogenic
30SLC22A5NM_003060.3(SLC22A5): c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs)insertionPathogenic
31SLC22A5NM_003060.3: c.654_825deldeletionPathogenic
32SLC22A5NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908886GRCh37Chr 5, 131722736: 131722736
33SLC22A5NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs)duplicationLikely pathogenic, Pathogenicrs121908887GRCh37Chr 5, 131726531: 131726531
34SLC22A5NM_003060.3(SLC22A5): c.1304delG (p.Gly435Alafs)deletionPathogenicrs386134217GRCh38Chr 5, 132392469: 132392469
35SLC22A5NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu)single nucleotide variantPathogenicrs72552735GRCh37Chr 5, 131728290: 131728290
36SLC22A5NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys)single nucleotide variantPathogenicrs121908888GRCh37Chr 5, 131719973: 131719973
37SLC22A5NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs121908889GRCh37Chr 5, 131719847: 131719847
38SLC22A5NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121908890GRCh37Chr 5, 131719846: 131719846
39SLC22A5NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg)single nucleotide variantPathogenicrs68018207GRCh37Chr 5, 131724712: 131724712
40SLC22A5NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln)single nucleotide variantPathogenicrs121908891GRCh37Chr 5, 131726525: 131726525
41SLC22A5NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs121908892GRCh37Chr 5, 131705667: 131705667
42SLC22A5NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter)single nucleotide variantPathogenicrs121908893GRCh37Chr 5, 131721127: 131721127
43SLC22A5NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp)single nucleotide variantPathogenicrs267607054GRCh37Chr 5, 131726524: 131726524
44SLC22A5NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile)indelPathogenicrs267607053GRCh37Chr 5, 131728181: 131728182
45SLC22A5NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp)single nucleotide variantLikely pathogenic, Pathogenicrs267607052GRCh37Chr 5, 131705707: 131705707

Expression for genes affiliated with Carnitine Deficiency, Systemic Primary

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Search GEO for disease gene expression data for Carnitine Deficiency, Systemic Primary.

Pathways for genes affiliated with Carnitine Deficiency, Systemic Primary

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Pathways related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3ACADM, ACADVL
2
Show member pathways
9.3ACADM, ACADVL
39.1CPT2, SLC25A20
4
Show member pathways
9.1ACADM, CPT2, SCD
5
Show member pathways
8.4ACADM, ACADVL, CPT2, SCD
6
Show member pathways
8.0ACADM, ACADVL, CPT2, SLC25A20
7
Show member pathways
7.6ACADM, ACADVL, CPT2, SCD, SLC25A20
8
Show member pathways
6.7ACADM, ACADVL, CPT2, ETFDH, SCD, SLC22A2

GO Terms for genes affiliated with Carnitine Deficiency, Systemic Primary

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Cellular components related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.1ACADM, ACADVL, ETFDH
2mitochondrial inner membraneGO:00057438.0ACADVL, CPT2, ETFDH, SLC25A20
3mitochondrionGO:00057397.5ACADM, ACADVL, CPT2, ETFDH, SLC25A20

Biological processes related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1quaternary ammonium group transportGO:001569710.1SLC22A2, SLC22A5
2drug transmembrane transportGO:000685510.0SLC22A2, SLC22A5
3lipid homeostasisGO:00550889.5ACADM, ACADVL
4fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.3ACADM, ACADVL, ETFDH
5carnitine metabolic processGO:00094379.3ACADM, SLC22A5
6carnitine shuttleGO:00068539.1CPT2, SLC25A20
7fatty acid beta-oxidationGO:00066358.8ACADM, ACADVL, CPT2

Molecular functions related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1quaternary ammonium group transmembrane transporter activityGO:001565110.2SLC22A2, SLC22A5
2acyl-CoA dehydrogenase activityGO:00039959.9ACADM, ACADVL
3oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.9ACADM, ACADVL
4fatty-acyl-CoA bindingGO:00000629.8ACADM, ACADVL
5oxidoreductase activityGO:00164919.5ETFDH, SCD
6flavin adenine dinucleotide bindingGO:00506608.9ACADM, ACADVL, ETFDH
7electron carrier activityGO:00090558.6ACADM, ACADVL, ETFDH

Sources for Carnitine Deficiency, Systemic Primary

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet