MCID: CRN239
MIFTS: 52

Carnitine Deficiency, Systemic Primary

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

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

MalaCards integrated aliases for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 53 13
Systemic Primary Carnitine Deficiency 23 49 55 71 36
Carnitine Uptake Defect 53 12 23 49 24
Carnitine Transporter Deficiency 12 72 49 24
Renal Carnitine Transport Defect 12 24 28 69
Systemic Carnitine Deficiency 53 72 24 41
Cdsp 53 23 55 71
Primary Carnitine Deficiency 12 49 24
Carnitine Uptake Deficiency 49 24 55
Cud 53 24 55
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 53 49
Deficiency of Plasma-Membrane Carnitine Transporter 12 55
Systemic Primary Carnitine Deficiency Disease 12 14
Carnitine Deficiency, Primary 53 51
Carnitine Transporter, Plasma-Membrane, Deficiency of 53
Carnitine Plasma-Membrane Transporter Deficiency 49
Systemic Carnitine Deficiency; Scd 53
Carnitine Uptake Defect; Cud 53
Carnitine Transporter Defect 55
Carnitine Transport Defect 23
Spcd 55
Scd 53

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
two main presentations
onset in infancy of acute hypoglycemic episodes
onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
carnitine supplementation can prevent further episodes and declines in cardiac function


HPO:

31
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carnitine Deficiency, Systemic Primary

OMIM : 53 Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis (Lamhonwah et al., 2002). If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure (summary by Shibbani et al., 2014). See also myopathic carnitine deficiency (212160), which is restricted to skeletal muscle. (212140)

MalaCards based summary : Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to sickle cell disease and schnyder corneal dystrophy, and has symptoms including vomiting, clumsiness 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/superpathways are Phospholipase D signaling pathway and Mitochondrial LC-Fatty Acid Beta-Oxidation. The drugs carnitine and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

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.

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.

Wikipedia : 72 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 via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle biopsy shows lipid deposition

Abdomen Liver:
hepatomegaly
steatosis

Laboratory Abnormalities:
hyperammonemia
abnormal liver enzymes
increased urinary carnitine
decreased carnitine in serum, muscle, heart, and liver
impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes
more
Metabolic Features:
hypoketotic hypoglycemic episodes, acute

Growth Other:
failure to thrive

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
fatty infiltration of heart muscle

Neurologic Central Nervous System:
lethargy associated with hypoglycemia
encephalopathy associated with hypoglycemia
coma associated with hypoglycemia
reye syndrome
delay in gross motor development due to weakness


Clinical features from OMIM:

212140

Human phenotypes related to Carnitine Deficiency, Systemic Primary:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002013
2 clumsiness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002312
3 muscle weakness 55 31 Very frequent (99-80%) HP:0001324
4 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
6 confusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0001289
7 neck muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000467
8 acute encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0006846
9 lethargy 31 HP:0001254
10 excessive daytime somnolence 31 HP:0001262
11 failure to thrive 31 HP:0001508
12 myopathy 31 HP:0003198
13 cardiomegaly 31 HP:0001640
14 hypertrophic cardiomyopathy 31 HP:0001639
15 congestive heart failure 31 HP:0001635
16 hepatic steatosis 31 HP:0001397
17 coma 31 HP:0001259
18 hyperammonemia 31 HP:0001987
19 encephalopathy 31 HP:0001298
20 recurrent hypoglycemia 31 HP:0001988
21 generalized hypotonia 31 HP:0001290
22 endocardial fibroelastosis 31 HP:0001706
23 bilateral convulsive seizures 55 Very frequent (99-80%)
24 decreased plasma carnitine 31 HP:0003234
25 impaired gluconeogenesis 31 HP:0005959
26 generalized tonic-clonic seizures with focal onset 31 hallmark (90%) HP:0007334
27 reduced muscle carnitine level 31 HP:0030362
28 decreased carnitine level in liver 31 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Nutraceutical Phase 4,Phase 3,Phase 2
2 Epoetin alfa Phase 3 113427-24-0
3 Hypoglycemic Agents
4 Pharmaceutical Solutions

Interventional clinical trials:

(show all 13)

# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
2 Early Administration of L-carnitine in Hemodialysis Patients Completed NCT00322322 Phase 3 L-Carnitine
3 Levocarnitine in Treating Fatigue in Cancer Patients Completed NCT00091169 Phase 3
4 Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants Recruiting NCT01783041 Phase 2, Phase 3 L-carnitine;5% Dextrose
5 L-carnitine for Fatigue in COPD Enrolling by invitation NCT03008356 Phase 2, Phase 3
6 Developmental Study on Fatigue in Cancer Completed NCT00034450 Phase 2 L-carnitine
7 L-Carnitine to Treat Fatigue in AIDS Patients Completed NCT00079599 Phase 2 L-carnitine
8 Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter Deficiency Completed NCT02226419
9 Carnitine Levels and Carnitine Supplementation in Type I Diabetes Completed NCT00351234 Carnitine (drug)
10 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
11 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
12 Carnitine, Aclycarnitine, Myocardial Function, and CRRT Recruiting NCT01941823
13 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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:

# Genetic test Affiliating Genes
1 Renal Carnitine Transport Defect 28 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

38
Heart, Liver, Kidney, Brain, Skeletal Muscle

Publications for Carnitine Deficiency, Systemic Primary

Articles related to Carnitine Deficiency, Systemic Primary:

# Title Authors Year
1
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency]. ( 28186590 )
2017
2
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. ( 25132046 )
2014
3
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. ( 20027113 )
2010
4
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. ( 10425211 )
1999
5
Systemic Primary Carnitine Deficiency ( 22420015 )
1993

Variations for Carnitine Deficiency, Systemic Primary

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

71 (show top 50) (show all 73)
# 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.Trp283Cys VAR_022565 rs386134211
9 SLC22A5 p.Ser467Cys VAR_022566 rs60376624
10 SLC22A5 p.Gly15Trp VAR_064110 rs267607052
11 SLC22A5 p.Arg19Pro VAR_064111 rs72552723
12 SLC22A5 p.Asn32Ser VAR_064112 rs72552725
13 SLC22A5 p.Pro46Ser VAR_064113 rs202088921
14 SLC22A5 p.Thr66Pro VAR_064114
15 SLC22A5 p.Arg75Pro VAR_064115 rs757711838
16 SLC22A5 p.Arg83Leu VAR_064116 rs72552726
17 SLC22A5 p.Gly96Ala VAR_064117 rs377767450
18 SLC22A5 p.Asp122Tyr VAR_064118 rs201082652
19 SLC22A5 p.Val123Gly VAR_064119 rs748605096
20 SLC22A5 p.Pro143Leu VAR_064121
21 SLC22A5 p.Arg169Trp VAR_064122 rs121908890
22 SLC22A5 p.Met177Val VAR_064123 rs145068530
23 SLC22A5 p.Leu186Pro VAR_064124 rs386134197
24 SLC22A5 p.Arg227His VAR_064126 rs185551386
25 SLC22A5 p.Phe230Leu VAR_064127 rs756650860
26 SLC22A5 p.Thr232Met VAR_064128 rs114269482
27 SLC22A5 p.Gly234Arg VAR_064129
28 SLC22A5 p.Ala240Thr VAR_064130
29 SLC22A5 p.Gly242Val VAR_064131 rs72552728
30 SLC22A5 p.Arg257Trp VAR_064132 rs386134203
31 SLC22A5 p.Thr264Arg VAR_064133 rs201262157
32 SLC22A5 p.Arg282Gln VAR_064134 rs386134210
33 SLC22A5 p.Ala301Asp VAR_064135 rs72552730
34 SLC22A5 p.Trp351Arg VAR_064137 rs68018207
35 SLC22A5 p.Ser355Leu VAR_064138
36 SLC22A5 p.Tyr358Asn VAR_064139 rs61731073
37 SLC22A5 p.Ser362Leu VAR_064140 rs886042092
38 SLC22A5 p.Pro398Leu VAR_064141 rs144547521
39 SLC22A5 p.Arg399Gln VAR_064142 rs121908891
40 SLC22A5 p.Arg399Trp VAR_064143 rs267607054
41 SLC22A5 p.Thr440Met VAR_064144 rs72552732
42 SLC22A5 p.Ala442Ile VAR_064145 rs267607053
43 SLC22A5 p.Phe443Val VAR_064146
44 SLC22A5 p.Tyr447Cys VAR_064147 rs386134218
45 SLC22A5 p.Pro455Arg VAR_064148
46 SLC22A5 p.Thr468Arg VAR_064149 rs386134221
47 SLC22A5 p.Arg471Cys VAR_064150 rs749282641
48 SLC22A5 p.Arg488Cys VAR_064151 rs377216516
49 SLC22A5 p.Leu507Ser VAR_064152
50 SLC22A5 p.Ser26Asn VAR_066843 rs772578415

ClinVar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A5 NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11568520 GRCh37 Chromosome 5, 131705715: 131705715
2 SLC22A5 NM_003060.3(SLC22A5): c.67_69delTTC (p.Phe23del) deletion Pathogenic rs377767444 GRCh37 Chromosome 5, 131705731: 131705733
3 SLC22A5 NM_003060.3(SLC22A5): c.95A> G (p.Asn32Ser) single nucleotide variant Pathogenic rs72552725 GRCh37 Chromosome 5, 131705759: 131705759
4 SLC22A5 NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu) single nucleotide variant Pathogenic/Likely pathogenic rs72552726 GRCh37 Chromosome 5, 131705912: 131705912
5 SLC22A5 NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser) single nucleotide variant Pathogenic/Likely pathogenic rs151231558 GRCh37 Chromosome 5, 131714100: 131714100
6 SLC22A5 NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs) deletion Pathogenic/Likely pathogenic rs386134195 GRCh37 Chromosome 5, 131714134: 131714135
7 SLC22A5 NM_003060.3(SLC22A5): c.652+1G> A single nucleotide variant Pathogenic rs386134200 GRCh37 Chromosome 5, 131719994: 131719994
8 SLC22A5 NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met) single nucleotide variant Pathogenic rs114269482 GRCh37 Chromosome 5, 131721062: 131721062
9 SLC22A5 NM_003060.3(SLC22A5): c.806delT (p.Leu269Hisfs) deletion Pathogenic/Likely pathogenic rs386134204 GRCh37 Chromosome 5, 131721173: 131721173
10 SLC22A5 NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln) single nucleotide variant Pathogenic rs386134210 GRCh37 Chromosome 5, 131722737: 131722737
11 SLC22A5 NM_003060.3(SLC22A5): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs386134212 GRCh37 Chromosome 5, 131722757: 131722757
12 SLC22A5 NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu) single nucleotide variant Pathogenic/Likely pathogenic rs144547521 GRCh37 Chromosome 5, 131726522: 131726522
13 SLC22A5 NM_003060.3(SLC22A5): c.1319C> T (p.Thr440Met) single nucleotide variant Pathogenic rs72552732 GRCh37 Chromosome 5, 131728176: 131728176
14 SLC22A5 NM_003060.3(SLC22A5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Pathogenic/Likely pathogenic rs386134218 GRCh37 Chromosome 5, 131728197: 131728197
15 SLC22A5 NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys) single nucleotide variant Pathogenic/Likely pathogenic rs60376624 GRCh37 Chromosome 5, 131728257: 131728257
16 SLC22A5 NM_003060.3(SLC22A5): c.1403C> G (p.Thr468Arg) single nucleotide variant Likely pathogenic rs386134221 GRCh37 Chromosome 5, 131728260: 131728260
17 SLC22A5 NM_003060.3(SLC22A5): c.1409C> T (p.Ser470Phe) single nucleotide variant Pathogenic rs386134222 GRCh37 Chromosome 5, 131728266: 131728266
18 SLC22A5 NM_003060.3(SLC22A5): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs386134223 GRCh37 Chromosome 5, 131728269: 131728269
19 SLC22A5 NM_003060.3(SLC22A5): c.1451-1G> A single nucleotide variant Likely pathogenic rs386134224 GRCh37 Chromosome 5, 131729367: 131729367
20 SLC22A5 NM_003060.3(SLC22A5): c.1556_1559dupACAC (p.Ile521Hisfs) duplication Likely pathogenic rs386134225 GRCh37 Chromosome 5, 131729473: 131729476
21 SLC22A5 NM_003060.3(SLC22A5): c.254_264dupGGCTCGCCACC (p.Ile89Glyfs) duplication Pathogenic rs377767449 GRCh37 Chromosome 5, 131705918: 131705928
22 SLC22A5 NM_003060.3(SLC22A5): c.148delT (p.Cys50Alafs) deletion Likely pathogenic rs386134227 GRCh37 Chromosome 5, 131705812: 131705812
23 SLC22A5 NM_003060.3(SLC22A5): c.338G> A (p.Cys113Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs727504159 GRCh37 Chromosome 5, 131706002: 131706002
24 SLC22A5 NM_003060.3(SLC22A5): c.394-2A> C single nucleotide variant Pathogenic rs377724489 GRCh37 Chromosome 5, 131714068: 131714068
25 SLC22A5 NM_003060.3(SLC22A5): c.136C> T (p.Pro46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs202088921 GRCh37 Chromosome 5, 131705800: 131705800
26 SLC22A5 SLC22A5, 113-BP DEL deletion Pathogenic
27 SLC22A5 SLC22A5, 1-BP INS, 226C insertion Pathogenic
28 SLC22A5 NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72552727 GRCh37 Chromosome 5, 131714072: 131714072
29 SLC22A5 SLC22A5, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
30 SLC22A5 SLC22A5, 1394-BP DEL deletion Pathogenic
31 SLC22A5 NM_003060.3(SLC22A5): c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs) insertion Pathogenic
32 SLC22A5 NM_003060.3: c.654_825del deletion Pathogenic
33 SLC22A5 NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908886 GRCh37 Chromosome 5, 131722736: 131722736
34 SLC22A5 NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs) duplication Pathogenic/Likely pathogenic rs121908887 GRCh37 Chromosome 5, 131726531: 131726531
35 SLC22A5 NM_003060.3(SLC22A5): c.1304delG (p.Gly435Alafs) deletion Pathogenic rs386134217 GRCh38 Chromosome 5, 132392469: 132392469
36 SLC22A5 NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu) single nucleotide variant Pathogenic rs72552735 GRCh37 Chromosome 5, 131728290: 131728290
37 SLC22A5 NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908888 GRCh37 Chromosome 5, 131719973: 131719973
38 SLC22A5 NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs121908889 GRCh37 Chromosome 5, 131719847: 131719847
39 SLC22A5 NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908890 GRCh37 Chromosome 5, 131719846: 131719846
40 SLC22A5 NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg) single nucleotide variant Pathogenic rs68018207 GRCh37 Chromosome 5, 131724712: 131724712
41 SLC22A5 NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln) single nucleotide variant Pathogenic rs121908891 GRCh37 Chromosome 5, 131726525: 131726525
42 SLC22A5 NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121908892 GRCh37 Chromosome 5, 131705667: 131705667
43 SLC22A5 NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs121908893 GRCh37 Chromosome 5, 131721127: 131721127
44 SLC22A5 NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607054 GRCh37 Chromosome 5, 131726524: 131726524
45 SLC22A5 NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile) indel Pathogenic/Likely pathogenic rs267607053 GRCh37 Chromosome 5, 131728181: 131728182
46 SLC22A5 NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607052 GRCh37 Chromosome 5, 131705707: 131705707
47 SLC22A5 NM_003060.3(SLC22A5): c.659A> T (p.Glu220Val) single nucleotide variant Likely pathogenic rs878853249 GRCh38 Chromosome 5, 132385334: 132385334
48 SLC22A5 NM_003060.3(SLC22A5): c.1365dupC (p.Thr456Hisfs) duplication Pathogenic rs878853248 GRCh37 Chromosome 5, 131728222: 131728222
49 SLC22A5 NM_003060.3(SLC22A5): c.160_166dupGACGCCG (p.Ala56Glyfs) duplication Likely pathogenic rs1057516797 GRCh38 Chromosome 5, 132370132: 132370138
50 SLC22A5 NM_003060.3(SLC22A5): c.393+1G> A single nucleotide variant Likely pathogenic rs1057517069 GRCh38 Chromosome 5, 132370366: 132370366

Expression for Carnitine Deficiency, Systemic Primary

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

Pathways for Carnitine Deficiency, Systemic Primary

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 SLC22A2 SLC22A4 SLC22A5
2
Show member pathways
10.88 CPT2 SLC25A20
3 9.66 CPT2 SLC25A20

GO Terms for Carnitine Deficiency, Systemic Primary

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 CPT2 ETFDH SLC22A4 SLC25A20
2 mitochondrial inner membrane GO:0005743 8.8 CPT2 ETFDH SLC25A20

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.88 CPT2 SLC22A2 SLC22A4 SLC22A5 SLC25A20
2 ion transport GO:0006811 9.69 SLC22A2 SLC22A4 SLC22A5
3 transmembrane transport GO:0055085 9.67 SLC22A2 SLC22A4 SLC22A5
4 sodium ion transport GO:0006814 9.52 SLC22A4 SLC22A5
5 drug transmembrane transport GO:0006855 9.46 SLC22A2 SLC22A5
6 organic cation transport GO:0015695 9.43 SLC22A2 SLC22A4
7 organic anion transport GO:0015711 9.43 SLC22A2 SLC22A4 SLC22A5
8 carnitine shuttle GO:0006853 9.4 CPT2 SLC25A20
9 body fluid secretion GO:0007589 9.37 SLC22A2 SLC22A4
10 carnitine transport GO:0015879 9.33 SLC22A4 SLC22A5 SLC25A20
11 carnitine metabolic process GO:0009437 9.32 SLC22A4 SLC22A5
12 quaternary ammonium group transport GO:0015697 9.13 SLC22A2 SLC22A4 SLC22A5
13 carnitine transmembrane transport GO:1902603 8.8 SLC22A4 SLC22A5 SLC25A20

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.54 SLC22A2 SLC22A4 SLC22A5
2 symporter activity GO:0015293 9.46 SLC22A4 SLC22A5
3 transporter activity GO:0005215 9.43 SLC22A4 SLC22A5
4 PDZ domain binding GO:0030165 9.4 SLC22A4 SLC22A5
5 organic anion transmembrane transporter activity GO:0008514 9.33 SLC22A2 SLC22A4 SLC22A5
6 secondary active organic cation transmembrane transporter activity GO:0008513 9.32 SLC22A2 SLC22A4
7 cation:cation antiporter activity GO:0015491 9.26 SLC22A4 SLC22A5
8 quaternary ammonium group transmembrane transporter activity GO:0015651 9.13 SLC22A2 SLC22A4 SLC22A5
9 carnitine transmembrane transporter activity GO:0015226 8.8 SLC22A4 SLC22A5 SLC25A20

Sources for Carnitine Deficiency, Systemic Primary

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