CDSP
MCID: CRN239
MIFTS: 50

Carnitine Deficiency, Systemic Primary (CDSP) malady

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

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

Aliases & Descriptions for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 54 13
Systemic Primary Carnitine Deficiency 23 50 24 56 66
Carnitine Uptake Defect 12 23 50 24 25
Renal Carnitine Transport Defect 12 25 29 69
Carnitine Transporter Deficiency 12 50 25
Systemic Carnitine Deficiency 24 25 42
Primary Carnitine Deficiency 12 50 25
Carnitine Uptake Deficiency 50 25 56
Cdsp 23 56 66
Deficiency of Plasma-Membrane Carnitine Transporter 12 56
Systemic Primary Carnitine Deficiency Disease 12 14
Cud 25 56
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 50
Carnitine Plasma-Membrane Transporter Deficiency 50
Carnitine Deficiency, Primary 52
Carnitine Transporter Defect 56
Carnitine Transport Defect 23
Spcd 56

Characteristics:

Orphanet epidemiological data:

56
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:

32
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 212140
Disease Ontology 12 DOID:14365
ICD10 33 E71.41 E71.42
ICD9CM 35 277.81 277.82
MeSH 42 C536778
NCIt 47 C98864
SNOMED-CT 64 21764004
Orphanet 56 ORPHA158
ICD10 via Orphanet 34 E71.3
MedGen 40 C0342788

Summaries for Carnitine Deficiency, Systemic Primary

OMIM : 54 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 myxozoa and atrial fibrillation, familial, 4, and has symptoms including vomiting, muscle weakness and lethargy. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty acid metabolism. The drugs Stavudine and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney.

Disease Ontology : 12 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 : 25 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 : 50 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 : 66 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 : 71 Systemic primary carnitine deficiency (SPCD), also known as carnitine uptake defect, carnitine... more...

GeneReviews: NBK84551

Related Diseases for Carnitine Deficiency, Systemic Primary

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



Diseases related to Carnitine Deficiency, Systemic Primary

Symptoms & Phenotypes for Carnitine Deficiency, Systemic Primary

Symptoms by clinical synopsis from OMIM:

212140

Clinical features from OMIM:

212140

Human phenotypes related to Carnitine Deficiency, Systemic Primary:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 muscle weakness 32 HP:0001324
3 lethargy 32 HP:0001254
4 excessive daytime somnolence 32 HP:0001262
5 muscular hypotonia 32 HP:0001252
6 failure to thrive 32 HP:0001508
7 hepatomegaly 32 HP:0002240
8 myopathy 32 HP:0003198
9 cardiomegaly 32 HP:0001640
10 hypertrophic cardiomyopathy 32 HP:0001639
11 congestive heart failure 32 HP:0001635
12 hepatic steatosis 32 HP:0001397
13 elevated hepatic transaminases 32 HP:0002910
14 coma 32 HP:0001259
15 hyperammonemia 32 HP:0001987
16 encephalopathy 32 HP:0001298
17 confusion 32 HP:0001289
18 endocardial fibroelastosis 32 HP:0001706
19 recurrent hypoglycemia 32 HP:0001988
20 decreased plasma carnitine 32 HP:0003234
21 impaired gluconeogenesis 32 HP:0005959
22 reduced muscle carnitine level 32 HP:0030362
23 decreased carnitine level in liver 32 HP:0045061

UMLS symptoms related to Carnitine Deficiency, Systemic Primary:


muscle weakness

Drugs & Therapeutics for Carnitine Deficiency, Systemic Primary

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

(show top 50) (show all 63)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Stavudine Approved, Investigational Phase 4,Phase 2 3056-17-5 18283
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
3
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
4
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
5
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
6 Trace Elements Phase 4,Phase 2
7 Vitamin B Complex Phase 4,Phase 2
8 Vitamins Phase 4,Phase 2
9 Micronutrients Phase 4,Phase 2
10 Dermatologic Agents Phase 4
11 Photosensitizing Agents Phase 4
12 Liver Extracts Phase 4
13 carnitine Nutraceutical Phase 4,Phase 3,Phase 2
14 Folate Nutraceutical Phase 4,Phase 2
15 Vitamin B9 Nutraceutical Phase 4,Phase 2
16 Vitamin B2 Nutraceutical Phase 4
17 Thiamin Nutraceutical Phase 4
18
Bezafibrate Approved Phase 3,Phase 2 41859-67-0 39042
19
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
20 Hypolipidemic Agents Phase 3,Phase 2
21 Lipid Regulating Agents Phase 3,Phase 2
22 Antimetabolites Phase 3,Phase 2
23 Epoetin alfa Phase 3 113427-24-0
24 GABA Agents Phase 3
25 Neurotransmitter Agents Phase 3
26 Tranquilizing Agents Phase 3
27 Anticonvulsants Phase 3
28 Psychotropic Drugs Phase 3
29 Antimanic Agents Phase 3
30 Central Nervous System Depressants Phase 3
31
Acetylcarnitine Approved, Investigational Phase 2 3040-38-8 1
32
Saquinavir Approved, Investigational Phase 2 127779-20-8 60787
33
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
34
Nelfinavir Approved Phase 2 159989-64-7 64143
35
Efavirenz Approved, Investigational Phase 2 154598-52-4 64139
36
Zidovudine Approved Phase 2 30516-87-1 35370
37
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
38
Glycerol Approved, Experimental Phase 2 56-81-5 753
39
Didanosine Approved Phase 2 69655-05-6 50599
40
Zalcitabine Approved Phase 2 7481-89-2 24066
41
Adefovir Dipivoxil Approved, Investigational Phase 2 142340-99-6 60871
42 Nootropic Agents Phase 2
43 Adefovir Phase 2
44
protease inhibitors Phase 2
45 HIV Protease Inhibitors Phase 2
46 Cytochrome P-450 CYP2C9 Inhibitors Phase 2
47 Cytochrome P-450 CYP3A Inducers Phase 2
48 Cytochrome P-450 CYP3A Inhibitors Phase 2
49 Cytochrome P-450 Enzyme Inhibitors Phase 2
50 Nucleic Acid Synthesis Inhibitors Phase 2

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4
2 Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study Completed NCT02204826 Phase 4
3 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4
4 Carnitine, Aclycarnitine, Myocardial Function, and CRRT Recruiting NCT01941823 Phase 4
5 Bezafibrate Trial in CPT2 Deficiency Unknown status NCT00336167 Phase 3
6 Early Administration of L-carnitine in Hemodialysis Patients Completed NCT00322322 Phase 3
7 Levocarnitine in Treating Fatigue in Cancer Patients Completed NCT00091169 Phase 3
8 Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants Recruiting NCT01783041 Phase 2, Phase 3
9 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
10 ALCAR Prophylaxis Study Unknown status NCT00225160 Phase 2
11 Developmental Study on Fatigue in Cancer Completed NCT00034450 Phase 2
12 L-Carnitine to Treat Fatigue in AIDS Patients Completed NCT00079599 Phase 2
13 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2
14 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2
15 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
16 The Effectiveness of Nelfinavir and Efavirenz, Used Alone or Together, Combined With Other Anti-HIV Drugs in Patients Who Have Taken Anti-HIV Drugs Completed NCT00001087 Phase 2
17 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414
18 Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter Deficiency Completed NCT02226419
19 Carnitine Levels and Carnitine Supplementation in Type I Diabetes Completed NCT00351234
20 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
21 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295
22 Metabolic Consequences of CPT-1 Deficiency Completed NCT00653666
23 Prevalence of Fatigue in Hemodialysis Patients Completed NCT01846754
24 Effects of L-Carnitine on Postprandial Clearance of Triglyceride-rich Lipoproteins in HIV Patients on HAART Completed NCT00386971
25 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
26 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304
27 L-carnitine for Fatigue in COPD Enrolling by invitation NCT03008356
28 Effects of Mixed Exercise Regime and L-Carnitine Supplementation in HIV Patients on HAART Withdrawn NCT00572429

Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary

Cochrane evidence based reviews: systemic carnitine deficiency

Genetic Tests for Carnitine Deficiency, Systemic Primary

Genetic tests related to Carnitine Deficiency, Systemic Primary:

id Genetic test Affiliating Genes
1 Renal Carnitine Transport Defect 29
2 Systemic Primary Carnitine Deficiency 24 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

39
Heart, Liver, Kidney, Brain, Skeletal Muscle

Publications for Carnitine Deficiency, Systemic Primary

Variations for Carnitine Deficiency, Systemic Primary

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

66 (show all 49)
id Symbol AA change Variation ID SNP ID
1 SLC22A5 p.Arg169Gln VAR_009252 rs121908889
2 SLC22A5 p.Tyr211Cys VAR_009253 rs121908888
3 SLC22A5 p.Trp283Arg VAR_009254 rs72552729
4 SLC22A5 p.Val446Phe VAR_009255 rs72552733
5 SLC22A5 p.Glu452Lys VAR_009256 rs72552734
6 SLC22A5 p.Pro478Leu VAR_009257 rs72552735
7 SLC22A5 p.Phe17Leu VAR_020347 rs11568520
8 SLC22A5 p.Met179Leu VAR_022564 rs386134196
9 SLC22A5 p.Trp283Cys VAR_022565 rs386134211
10 SLC22A5 p.Ser467Cys VAR_022566 rs60376624
11 SLC22A5 p.Tyr449Asp VAR_029315 rs11568514
12 SLC22A5 p.Gly12Ser VAR_064109 rs139203363
13 SLC22A5 p.Gly15Trp VAR_064110 rs267607052
14 SLC22A5 p.Arg19Pro VAR_064111 rs72552723
15 SLC22A5 p.Asn32Ser VAR_064112 rs72552725
16 SLC22A5 p.Pro46Ser VAR_064113 rs202088921
17 SLC22A5 p.Arg83Leu VAR_064116 rs72552726
18 SLC22A5 p.Asp122Tyr VAR_064118 rs201082652
19 SLC22A5 p.Ala142Ser VAR_064120 rs151231558
20 SLC22A5 p.Arg169Trp VAR_064122 rs121908890
21 SLC22A5 p.Leu186Pro VAR_064124 rs386134197
22 SLC22A5 p.Ala214Val VAR_064125 rs386134199
23 SLC22A5 p.Arg227His VAR_064126 rs185551386
24 SLC22A5 p.Thr232Met VAR_064128 rs114269482
25 SLC22A5 p.Gly234Arg VAR_064129
26 SLC22A5 p.Gly242Val VAR_064131 rs72552728
27 SLC22A5 p.Arg257Trp VAR_064132 rs386134203
28 SLC22A5 p.Thr264Arg VAR_064133 rs201262157
29 SLC22A5 p.Arg282Gln VAR_064134 rs386134210
30 SLC22A5 p.Ala301Asp VAR_064135 rs72552730
31 SLC22A5 p.Trp351Arg VAR_064137 rs68018207
32 SLC22A5 p.Ser355Leu VAR_064138
33 SLC22A5 p.Ser362Leu VAR_064140
34 SLC22A5 p.Pro398Leu VAR_064141 rs144547521
35 SLC22A5 p.Arg399Gln VAR_064142 rs121908891
36 SLC22A5 p.Arg399Trp VAR_064143 rs267607054
37 SLC22A5 p.Thr440Met VAR_064144 rs72552732
38 SLC22A5 p.Ala442Ile VAR_064145 rs267607053
39 SLC22A5 p.Phe443Val VAR_064146
40 SLC22A5 p.Tyr447Cys VAR_064147 rs386134218
41 SLC22A5 p.Pro455Arg VAR_064148
42 SLC22A5 p.Thr468Arg VAR_064149 rs386134221
43 SLC22A5 p.Arg471Cys VAR_064150 rs749282641
44 SLC22A5 p.Arg488Cys VAR_064151 rs377216516
45 SLC22A5 p.Leu507Ser VAR_064152
46 SLC22A5 p.Ser26Asn VAR_066843 rs772578415
47 SLC22A5 p.Ser280Phe VAR_066844 rs386134208
48 SLC22A5 p.Arg471Pro VAR_066845
49 SLC22A5 p.Arg488His VAR_066846 rs28383481

ClinVar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (show top 50) (show all 58)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A5 SLC22A5, 113-BP DEL deletion Pathogenic
2 SLC22A5 SLC22A5, 1-BP INS, 226C insertion Pathogenic
3 SLC22A5 NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72552727 GRCh37 Chromosome 5, 131714072: 131714072
4 SLC22A5 SLC22A5, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
5 SLC22A5 SLC22A5, 1394-BP DEL deletion Pathogenic
6 SLC22A5 NM_003060.3(SLC22A5): c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs) insertion Pathogenic
7 SLC22A5 NM_003060.3: c.654_825del deletion Pathogenic
8 SLC22A5 NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908886 GRCh37 Chromosome 5, 131722736: 131722736
9 SLC22A5 NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs) duplication Pathogenic/Likely pathogenic rs121908887 GRCh37 Chromosome 5, 131726531: 131726531
10 SLC22A5 NM_003060.3(SLC22A5): c.1304delG (p.Gly435Alafs) deletion Pathogenic rs386134217 GRCh38 Chromosome 5, 132392469: 132392469
11 SLC22A5 NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu) single nucleotide variant Pathogenic rs72552735 GRCh37 Chromosome 5, 131728290: 131728290
12 SLC22A5 NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908888 GRCh37 Chromosome 5, 131719973: 131719973
13 SLC22A5 NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs121908889 GRCh37 Chromosome 5, 131719847: 131719847
14 SLC22A5 NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908890 GRCh37 Chromosome 5, 131719846: 131719846
15 SLC22A5 NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg) single nucleotide variant Pathogenic rs68018207 GRCh37 Chromosome 5, 131724712: 131724712
16 SLC22A5 NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln) single nucleotide variant Pathogenic rs121908891 GRCh37 Chromosome 5, 131726525: 131726525
17 SLC22A5 NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121908892 GRCh37 Chromosome 5, 131705667: 131705667
18 SLC22A5 NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs121908893 GRCh37 Chromosome 5, 131721127: 131721127
19 SLC22A5 NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607054 GRCh37 Chromosome 5, 131726524: 131726524
20 SLC22A5 NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile) indel Pathogenic rs267607053 GRCh37 Chromosome 5, 131728181: 131728182
21 SLC22A5 NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607052 GRCh37 Chromosome 5, 131705707: 131705707
22 SLC22A5 NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu) single nucleotide variant Pathogenic rs11568520 GRCh37 Chromosome 5, 131705715: 131705715
23 SLC22A5 NM_003060.3(SLC22A5): c.95A> G (p.Asn32Ser) single nucleotide variant Pathogenic rs72552725 GRCh37 Chromosome 5, 131705759: 131705759
24 SLC22A5 NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu) single nucleotide variant Pathogenic/Likely pathogenic rs72552726 GRCh37 Chromosome 5, 131705912: 131705912
25 SLC22A5 NM_003060.3(SLC22A5): c.364G> T (p.Asp122Tyr) single nucleotide variant Pathogenic rs201082652 GRCh37 Chromosome 5, 131706028: 131706028
26 SLC22A5 NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser) single nucleotide variant Pathogenic rs151231558 GRCh37 Chromosome 5, 131714100: 131714100
27 SLC22A5 NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs) deletion Pathogenic/Likely pathogenic rs386134195 GRCh37 Chromosome 5, 131714134: 131714135
28 SLC22A5 NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met) single nucleotide variant Pathogenic rs114269482 GRCh37 Chromosome 5, 131721062: 131721062
29 SLC22A5 NM_003060.3(SLC22A5): c.806delT (p.Leu269Hisfs) deletion Pathogenic/Likely pathogenic rs386134204 GRCh37 Chromosome 5, 131721173: 131721173
30 SLC22A5 NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln) single nucleotide variant Pathogenic rs386134210 GRCh37 Chromosome 5, 131722737: 131722737
31 SLC22A5 NM_003060.3(SLC22A5): c.1181_1183delTGC (p.Leu394del) deletion Likely pathogenic rs386134215 GRCh37 Chromosome 5, 131726510: 131726512
32 SLC22A5 NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu) single nucleotide variant Pathogenic/Likely pathogenic rs144547521 GRCh37 Chromosome 5, 131726522: 131726522
33 SLC22A5 NM_003060.3(SLC22A5): c.1319C> T (p.Thr440Met) single nucleotide variant Pathogenic rs72552732 GRCh37 Chromosome 5, 131728176: 131728176
34 SLC22A5 NM_003060.3(SLC22A5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Pathogenic/Likely pathogenic rs386134218 GRCh37 Chromosome 5, 131728197: 131728197
35 SLC22A5 NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys) single nucleotide variant Pathogenic rs60376624 GRCh37 Chromosome 5, 131728257: 131728257
36 SLC22A5 NM_003060.3(SLC22A5): c.1403C> G (p.Thr468Arg) single nucleotide variant Likely pathogenic rs386134221 GRCh37 Chromosome 5, 131728260: 131728260
37 SLC22A5 NM_003060.3(SLC22A5): c.1451-1G> A single nucleotide variant Likely pathogenic rs386134224 GRCh37 Chromosome 5, 131729367: 131729367
38 SLC22A5 NM_003060.3(SLC22A5): c.1556_1559dupACAC (p.Ile521Hisfs) duplication Likely pathogenic rs386134225 GRCh37 Chromosome 5, 131729473: 131729476
39 SLC22A5 NM_003060.3(SLC22A5): c.254_264dupGGCTCGCCACC (p.Ile89Glyfs) duplication Pathogenic rs377767449 GRCh37 Chromosome 5, 131705918: 131705928
40 SLC22A5 NM_003060.3(SLC22A5): c.1463G> A (p.Arg488His) single nucleotide variant Pathogenic rs28383481 GRCh37 Chromosome 5, 131729380: 131729380
41 SLC22A5 NM_003060.3(SLC22A5): c.148delT (p.Cys50Alafs) deletion Likely pathogenic rs386134227 GRCh37 Chromosome 5, 131705812: 131705812
42 SLC22A5 NM_003060.3(SLC22A5): c.338G> A (p.Cys113Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs727504159 GRCh37 Chromosome 5, 131706002: 131706002
43 SLC22A5 NM_003060.3(SLC22A5): c.394-2A> C single nucleotide variant Pathogenic rs377724489 GRCh37 Chromosome 5, 131714068: 131714068
44 SLC22A5 NM_003060.3(SLC22A5): c.136C> T (p.Pro46Ser) single nucleotide variant Pathogenic rs202088921 GRCh37 Chromosome 5, 131705800: 131705800
45 SLC22A5 NM_003060.3(SLC22A5): c.659A> T (p.Glu220Val) single nucleotide variant Likely pathogenic rs878853249 GRCh38 Chromosome 5, 132385334: 132385334
46 SLC22A5 NM_003060.3(SLC22A5): c.1365dupC (p.Thr456Hisfs) duplication Pathogenic rs878853248 GRCh37 Chromosome 5, 131728222: 131728222
47 SLC22A5 NM_003060.3(SLC22A5): c.160_166dupGACGCCG (p.Ala56Glyfs) duplication Likely pathogenic rs1057516797 GRCh38 Chromosome 5, 132370132: 132370138
48 SLC22A5 NM_003060.3(SLC22A5): c.393+1G> A single nucleotide variant Likely pathogenic rs1057517069 GRCh38 Chromosome 5, 132370366: 132370366
49 SLC22A5 NM_003060.3(SLC22A5): c.394-1G> T single nucleotide variant Likely pathogenic rs1057517106 GRCh37 Chromosome 5, 131714069: 131714069
50 SLC22A5 NM_003060.3(SLC22A5): c.491C> G (p.Ser164Ter) single nucleotide variant Likely pathogenic rs1057516765 GRCh38 Chromosome 5, 132378475: 132378475

Expression for Carnitine Deficiency, Systemic Primary

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

Pathways for Carnitine Deficiency, Systemic Primary

GO Terms for Carnitine Deficiency, Systemic Primary

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ACADVL CPT2 ETFDH SLC25A20
2 mitochondrial inner membrane GO:0005743 8.92 ACADVL CPT2 ETFDH SLC25A20

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.76 CPT2 SLC22A2 SLC22A5 SLC25A20
2 fatty acid metabolic process GO:0006631 9.48 ACADVL CPT2
3 fatty acid beta-oxidation GO:0006635 9.43 ACADVL CPT2
4 organic anion transport GO:0015711 9.4 SLC22A2 SLC22A5
5 drug transmembrane transport GO:0006855 9.37 SLC22A2 SLC22A5
6 carnitine shuttle GO:0006853 9.32 CPT2 SLC25A20
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADVL ETFDH
8 carnitine transport GO:0015879 9.16 SLC22A5 SLC25A20
9 quaternary ammonium group transport GO:0015697 8.96 SLC22A2 SLC22A5
10 carnitine transmembrane transport GO:1902603 8.62 SLC22A5 SLC25A20

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.32 SLC22A2 SLC22A5
2 flavin adenine dinucleotide binding GO:0050660 9.26 ACADVL ETFDH
3 organic anion transmembrane transporter activity GO:0008514 9.16 SLC22A2 SLC22A5
4 carnitine transmembrane transporter activity GO:0015226 8.96 SLC22A5 SLC25A20
5 quaternary ammonium group transmembrane transporter activity GO:0015651 8.62 SLC22A2 SLC22A5

Sources for Carnitine Deficiency, Systemic Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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