MCID: CRN239
MIFTS: 47

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 49 11
Systemic Primary Carnitine Deficiency 21 45 22 51 67
Carnitine Uptake Defect 10 21 45 22 23
Renal Carnitine Transport Defect 10 23 24 65
Carnitine Transporter Deficiency 10 45 23
Systemic Carnitine Deficiency 22 23 36
Primary Carnitine Deficiency 10 45 23
Carnitine Uptake Deficiency 45 23 51
Cdsp 21 51 67
 
Cud 21 23 51
Deficiency of Plasma-Membrane Carnitine Transporter 10 51
Systemic Primary Carnitine Deficiency Disease 10 12
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 45
Carnitine Plasma-Membrane Transporter Deficiency 45
Carnitine Deficiency, Primary 47
Carnitine Transporter Defect 51
Spcd 51

Characteristics:

Orphanet epidemiological data:

51
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:

61
carnitine deficiency, systemic primary:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 212140
Disease Ontology10 DOID:14365
ICD9CM29 277.81, 277.82
MeSH36 C536778
SNOMED-CT59 21764004
NCIt42 C98864
Orphanet51 158
ICD10 via Orphanet28 E71.3
MedGen34 C0342788
UMLS65 C0342788, C1260388

Summaries for Carnitine Deficiency, Systemic Primary

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OMIM:49 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 breast cancer and b-cell lymphomas, and has symptoms including decreased carnitine level in liver, reduced muscle carnitine level and impaired gluconeogenesis. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways are PPAR signaling pathway and Import of palmitoyl-CoA into the mitochondrial matrix. Affiliated tissues include heart, liver and brain, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 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.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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:67 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.

Wikipedia:68 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 decreased carnitine level in liver HP:0045061
2 reduced muscle carnitine level HP:0030362
3 impaired gluconeogenesis HP:0005959
4 decreased plasma carnitine HP:0003234
5 myopathy HP:0003198
6 elevated hepatic transaminases HP:0002910
7 hepatomegaly HP:0002240
8 vomiting HP:0002013
9 recurrent hypoglycemia HP:0001988
10 hyperammonemia HP:0001987
11 endocardial fibroelastosis HP:0001706
12 cardiomegaly HP:0001640
13 hypertrophic cardiomyopathy HP:0001639
14 congestive heart failure HP:0001635
15 failure to thrive HP:0001508
16 hepatic steatosis HP:0001397
17 muscle weakness HP:0001324
18 encephalopathy HP:0001298
19 confusion HP:0001289
20 somnolence HP:0001262
21 coma HP:0001259
22 lethargy HP:0001254
23 muscular hypotonia HP:0001252

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 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Ginsengapproved, nutraceuticalPhase 48750647-08-0
2carnitineNutraceuticalPhase 4, Phase 3, Phase 2146
3
BezafibrateapprovedPhase 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
4
Epoetin alfaapprovedPhase 3626113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
5
Valproic Acidapproved, investigationalPhase 331199-66-13121
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-pentanoic 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-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)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
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
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
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
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
6Hypolipidemic AgentsPhase 3, Phase 22228
7AntimetabolitesPhase 3, Phase 29454
8Neurotransmitter AgentsPhase 314795
9Tranquilizing AgentsPhase 33597
10Psychotropic DrugsPhase 35501
11Central Nervous System DepressantsPhase 310016
12AnticonvulsantsPhase 32249
13Antimanic AgentsPhase 3663
14
GlycerolexperimentalPhase 219156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
15
Ironapproved10217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
16Hypoglycemic Agents4503
17Pharmaceutical Solutions7004
18ferric gluconate18
19methionineNutraceutical73
20lysineNutraceutical77
21pyruvateNutraceutical30

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical StudyCompletedNCT02204826Phase 4
2Effect of Carnitine Deficiency on Myocardial Function in Children Receiving Continuous Renal Replacement TherapyRecruitingNCT01941823Phase 4
3Identification of Carnitine-Responsive CardiomyopathyNot yet recruitingNCT01904396Phase 4
4Early Administration of L-carnitine in Hemodialysis PatientsCompletedNCT00322322Phase 3
5Levocarnitine in Treating Fatigue in Cancer PatientsCompletedNCT00091169Phase 3
6Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm InfantsRecruitingNCT01783041Phase 2, Phase 3
7Bezafibrate Trial in CPT2 DeficiencyRecruitingNCT00336167Phase 3
8Valproate and Levocarnitine in Children With Spinal Muscular AtrophyRecruitingNCT01671384Phase 3
9L-Carnitine to Treat Fatigue in AIDS PatientsCompletedNCT00079599Phase 2
10Developmental Study on Fatigue in CancerCompletedNCT00034450Phase 2
11Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
12Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
13Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter DeficiencyCompletedNCT02226419
14Carnitine Levels and Carnitine Supplementation in Type I DiabetesCompletedNCT00351234
15Influence of OCTN2 Variants on Carnitine Status and Plasma TriglyceridesCompletedNCT00187733
16Effects of Parenteral L-carnitine Supplementation in Premature NeonatesCompletedNCT00841295
17Metabolic Consequences of CPT-1 DeficiencyCompletedNCT00653666
18Prevalence of Fatigue in Hemodialysis PatientsCompletedNCT01846754
19Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
20Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeRecruitingNCT02312414
21Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304

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 Systemic Primary Carnitine Deficiency22 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

33
Heart, Liver, Brain, Skeletal muscle, Kidney

Animal Models for Carnitine Deficiency, Systemic Primary or affiliated genes

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MGI Mouse Phenotypes related to Carnitine Deficiency, Systemic Primary:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.9ACADVL, CPT2, SCD, SLC22A2, SLC22A4, 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:

67 (show all 49)
id Symbol AA change Variation ID SNP ID
1SLC22A5p.Arg169GlnVAR_009252
2SLC22A5p.Tyr211CysVAR_009253
3SLC22A5p.Trp283ArgVAR_009254
4SLC22A5p.Val446PheVAR_009255
5SLC22A5p.Glu452LysVAR_009256
6SLC22A5p.Pro478LeuVAR_009257
7SLC22A5p.Phe17LeuVAR_020347
8SLC22A5p.Met179LeuVAR_022564
9SLC22A5p.Trp283CysVAR_022565
10SLC22A5p.Ser467CysVAR_022566rs60376624
11SLC22A5p.Tyr449AspVAR_029315rs11568514
12SLC22A5p.Gly12SerVAR_064109rs139203363
13SLC22A5p.Gly15TrpVAR_064110
14SLC22A5p.Arg19ProVAR_064111
15SLC22A5p.Asn32SerVAR_064112
16SLC22A5p.Pro46SerVAR_064113
17SLC22A5p.Arg83LeuVAR_064116
18SLC22A5p.Asp122TyrVAR_064118
19SLC22A5p.Ala142SerVAR_064120
20SLC22A5p.Arg169TrpVAR_064122
21SLC22A5p.Leu186ProVAR_064124
22SLC22A5p.Ala214ValVAR_064125
23SLC22A5p.Arg227HisVAR_064126rs185551386
24SLC22A5p.Thr232MetVAR_064128rs114269482
25SLC22A5p.Gly234ArgVAR_064129
26SLC22A5p.Gly242ValVAR_064131
27SLC22A5p.Arg257TrpVAR_064132
28SLC22A5p.Thr264ArgVAR_064133
29SLC22A5p.Arg282GlnVAR_064134
30SLC22A5p.Ala301AspVAR_064135
31SLC22A5p.Trp351ArgVAR_064137
32SLC22A5p.Ser355LeuVAR_064138
33SLC22A5p.Ser362LeuVAR_064140
34SLC22A5p.Pro398LeuVAR_064141
35SLC22A5p.Arg399GlnVAR_064142
36SLC22A5p.Arg399TrpVAR_064143
37SLC22A5p.Thr440MetVAR_064144
38SLC22A5p.Ala442IleVAR_064145
39SLC22A5p.Phe443ValVAR_064146
40SLC22A5p.Tyr447CysVAR_064147
41SLC22A5p.Pro455ArgVAR_064148
42SLC22A5p.Thr468ArgVAR_064149
43SLC22A5p.Arg471CysVAR_064150
44SLC22A5p.Arg488CysVAR_064151
45SLC22A5p.Leu507SerVAR_064152
46SLC22A5p.Ser26AsnVAR_066843
47SLC22A5p.Ser280PheVAR_066844
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.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs139203363GRCh37Chr 5, 131705698: 131705698
4SLC22A5NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu)single nucleotide variantPathogenicrs11568520GRCh37Chr 5, 131705715: 131705715
5SLC22A5NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu)single nucleotide variantPathogenicrs72552726GRCh37Chr 5, 131705912: 131705912
6SLC22A5NM_003060.3(SLC22A5): c.364G> T (p.Asp122Tyr)single nucleotide variantPathogenicrs201082652GRCh37Chr 5, 131706028: 131706028
7SLC22A5NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser)single nucleotide variantPathogenicrs151231558GRCh37Chr 5, 131714100: 131714100
8SLC22A5NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs)deletionLikely pathogenic, Pathogenicrs386134195GRCh37Chr 5, 131714134: 131714135
9SLC22A5NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met)single nucleotide variantPathogenicrs114269482GRCh37Chr 5, 131721062: 131721062
10SLC22A5NM_003060.3(SLC22A5): c.769C> T (p.Arg257Trp)single nucleotide variantPathogenicrs386134203GRCh37Chr 5, 131721136: 131721136
11SLC22A5NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs386134210GRCh37Chr 5, 131722737: 131722737
12SLC22A5NM_003060.3(SLC22A5): c.865C> T (p.Arg289Ter)single nucleotide variantPathogenicrs386134212GRCh37Chr 5, 131722757: 131722757
13SLC22A5NM_003060.3(SLC22A5): c.1181_1183delTGC (p.Leu394del)deletionLikely pathogenicrs386134215GRCh37Chr 5, 131726510: 131726512
14SLC22A5NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu)single nucleotide variantLikely pathogenic, Pathogenicrs144547521GRCh37Chr 5, 131726522: 131726522
15SLC22A5NM_003060.3(SLC22A5): c.1319C> T (p.Thr440Met)single nucleotide variantPathogenicrs72552732GRCh37Chr 5, 131728176: 131728176
16SLC22A5NM_003060.3(SLC22A5): c.1340A> G (p.Tyr447Cys)single nucleotide variantLikely pathogenicrs386134218GRCh37Chr 5, 131728197: 131728197
17SLC22A5NM_003060.3(SLC22A5): c.1345T> G (p.Tyr449Asp)single nucleotide variantPathogenicrs11568514GRCh37Chr 5, 131728202: 131728202
18SLC22A5NM_003060.3(SLC22A5): c.1354G> A (p.Glu452Lys)single nucleotide variantLikely pathogenicrs72552734GRCh37Chr 5, 131728211: 131728211
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
31SLC22A5SLC22A5, 171-BP DEL, NT875deletionPathogenic
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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GO Terms for genes affiliated with Carnitine Deficiency, Systemic Primary

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

idNameGO IDScoreTop Affiliating Genes
1carnitine metabolic processGO:000943710.0SLC22A4, SLC22A5
2cellular lipid metabolic processGO:00442559.3ACADVL, SCD
3transmembrane transportGO:00550859.0SLC22A2, SLC22A4, SLC22A5

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

idNameGO IDScoreTop Affiliating Genes
1quaternary ammonium group transmembrane transporter activityGO:00156519.2SLC22A2, SLC22A4, SLC22A5
2electron carrier activityGO:00090559.2ACADVL, ETFDH

Sources for Carnitine Deficiency, Systemic Primary

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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