MCID: CRN239
MIFTS: 53

Carnitine Deficiency, Systemic Primary

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

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

MalaCards integrated aliases for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 57 13 40
Systemic Primary Carnitine Deficiency 24 53 59 75 37
Renal Carnitine Transport Defect 12 25 29 6 73
Carnitine Uptake Defect 57 12 24 53 25
Carnitine Transporter Deficiency 12 76 53 25
Systemic Carnitine Deficiency 57 76 25 44
Cdsp 57 24 59 75
Primary Carnitine Deficiency 12 53 25
Carnitine Uptake Deficiency 53 25 59
Cud 57 25 59
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 57 53
Deficiency of Plasma-Membrane Carnitine Transporter 12 59
Systemic Primary Carnitine Deficiency Disease 12 15
Carnitine Deficiency, Primary 57 55
Carnitine Transporter, Plasma-Membrane, Deficiency of 57
Carnitine Plasma-Membrane Transporter Deficiency 53
Systemic Carnitine Deficiency; Scd 57
Carnitine Uptake Defect; Cud 57
Carnitine Transporter Defect 59
Carnitine Transport Defect 24
Spcd 59
Scd 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carnitine Deficiency, Systemic Primary

OMIM : 57 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 hypoglycemia and sickle cell disease, and has symptoms including 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty acid metabolism. The drugs carnitine and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related phenotypes are muscle weakness and hepatomegaly

UniProtKB/Swiss-Prot : 75 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 : 53 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.

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.

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 : 76 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:

57
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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 Very frequent (99-80%) HP:0001324
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
4 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
5 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
6 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
7 confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0001289
8 acute encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006846
9 muscular hypotonia 32 HP:0001252
10 failure to thrive 32 HP:0001508
11 myopathy 32 HP:0003198
12 cardiomegaly 32 HP:0001640
13 hypertrophic cardiomyopathy 32 HP:0001639
14 hypoglycemia 32 HP:0001943
15 congestive heart failure 32 HP:0001635
16 hepatic steatosis 32 HP:0001397
17 coma 32 HP:0001259
18 hyperammonemia 32 HP:0001987
19 lethargy 32 HP:0001254
20 encephalopathy 32 HP:0001298
21 recurrent hypoglycemia 32 HP:0001988
22 excessive daytime somnolence 32 HP:0001262
23 generalized hypotonia 32 HP:0001290
24 endocardial fibroelastosis 32 HP:0001706
25 bilateral convulsive seizures 59 Very frequent (99-80%)
26 decreased plasma carnitine 32 HP:0003234
27 impaired gluconeogenesis 32 HP:0005959
28 generalized tonic-clonic seizures with focal onset 32 hallmark (90%) HP:0007334
29 reduced muscle carnitine level 32 HP:0030362
30 decreased carnitine level in liver 32 HP:0045061

UMLS symptoms related to Carnitine Deficiency, Systemic Primary:


muscle weakness

MGI Mouse Phenotypes related to Carnitine Deficiency, Systemic Primary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 ETFDH SLC22A5 SLC25A20 ACADVL CPT2

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,Not Applicable
2 Epoetin alfa Phase 3 113427-24-0
3 Hypoglycemic Agents
4 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 14)
# 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 Treatment of Hyperbilirubinemia Due to PEG-asparaginase and Inotuzumab Ozogamicin in Acute Lymphoblastic Leukemia (ALL) Recruiting NCT03564678 Phase 2 Levocarnitine
9 Fat and Sugar Metabolism During Exercise, With and Without L-carnitine in Patients With Carnitine Transporter Deficiency Completed NCT02226419 Not Applicable
10 Carnitine Levels and Carnitine Supplementation in Type I Diabetes Completed NCT00351234 Carnitine (drug)
11 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
12 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Not Applicable Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
13 Carnitine, Aclycarnitine, Myocardial Function, and CRRT Recruiting NCT01941823
14 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

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 29 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

41
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
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. ( 23090741 )
2012
4
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. ( 20027113 )
2010
5
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
6
Systemic Primary Carnitine Deficiency ( 22420015 )
1993

Variations for Carnitine Deficiency, Systemic Primary

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

75 (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 294)
# 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 Likely pathogenic rs72552727 GRCh37 Chromosome 5, 131714072: 131714072
4 SLC22A5 NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter) single nucleotide variant Likely pathogenic rs72552727 GRCh38 Chromosome 5, 132378380: 132378380
5 SLC22A5 SLC22A5, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
6 SLC22A5 SLC22A5, 1394-BP DEL deletion Pathogenic
7 SLC22A5 NM_003060.3(SLC22A5): c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs) insertion Pathogenic
8 SLC22A5 NM_003060.3: c.654_825del deletion Pathogenic
9 SLC22A5 NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908886 GRCh37 Chromosome 5, 131722736: 131722736
10 SLC22A5 NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908886 GRCh38 Chromosome 5, 132387044: 132387044
11 SLC22A5 NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs) duplication Pathogenic/Likely pathogenic rs121908887 GRCh37 Chromosome 5, 131726531: 131726531
12 SLC22A5 NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs) duplication Pathogenic/Likely pathogenic rs121908887 GRCh38 Chromosome 5, 132390839: 132390839
13 SLC22A5 NM_003060.3(SLC22A5): c.1304delG (p.Gly435Alafs) deletion Pathogenic rs386134217 GRCh38 Chromosome 5, 132392469: 132392469
14 SLC22A5 NM_003060.3(SLC22A5): c.1304delG (p.Gly435Alafs) deletion Pathogenic rs386134217 GRCh37 Chromosome 5, 131728161: 131728161
15 SLC22A5 NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu) single nucleotide variant Pathogenic rs72552735 GRCh37 Chromosome 5, 131728290: 131728290
16 SLC22A5 NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu) single nucleotide variant Pathogenic rs72552735 GRCh38 Chromosome 5, 132392598: 132392598
17 SLC22A5 NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys) single nucleotide variant Likely pathogenic rs121908888 GRCh37 Chromosome 5, 131719973: 131719973
18 SLC22A5 NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys) single nucleotide variant Likely pathogenic rs121908888 GRCh38 Chromosome 5, 132384281: 132384281
19 SLC22A5 NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs121908889 GRCh37 Chromosome 5, 131719847: 131719847
20 SLC22A5 NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs121908889 GRCh38 Chromosome 5, 132384155: 132384155
21 SLC22A5 NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908890 GRCh37 Chromosome 5, 131719846: 131719846
22 SLC22A5 NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908890 GRCh38 Chromosome 5, 132384154: 132384154
23 SLC22A5 NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg) single nucleotide variant Pathogenic rs68018207 GRCh37 Chromosome 5, 131724712: 131724712
24 SLC22A5 NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg) single nucleotide variant Pathogenic rs68018207 GRCh38 Chromosome 5, 132389020: 132389020
25 SLC22A5 NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln) single nucleotide variant Pathogenic rs121908891 GRCh37 Chromosome 5, 131726525: 131726525
26 SLC22A5 NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln) single nucleotide variant Pathogenic rs121908891 GRCh38 Chromosome 5, 132390833: 132390833
27 SLC22A5 NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile) single nucleotide variant Likely pathogenic rs121908892 GRCh37 Chromosome 5, 131705667: 131705667
28 SLC22A5 NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile) single nucleotide variant Likely pathogenic rs121908892 GRCh38 Chromosome 5, 132369975: 132369975
29 SLC22A5 NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs121908893 GRCh37 Chromosome 5, 131721127: 131721127
30 SLC22A5 NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs121908893 GRCh38 Chromosome 5, 132385435: 132385435
31 SLC22A5 NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607054 GRCh37 Chromosome 5, 131726524: 131726524
32 SLC22A5 NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607054 GRCh38 Chromosome 5, 132390832: 132390832
33 SLC22A5 NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile) indel Pathogenic/Likely pathogenic rs267607053 GRCh37 Chromosome 5, 131728181: 131728182
34 SLC22A5 NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile) indel Pathogenic/Likely pathogenic rs267607053 GRCh38 Chromosome 5, 132392489: 132392490
35 SLC22A5 NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607052 GRCh37 Chromosome 5, 131705707: 131705707
36 SLC22A5 NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607052 GRCh38 Chromosome 5, 132370015: 132370015
37 SLC22A5 NM_003060.3(SLC22A5): c.67_69delTTC (p.Phe23del) deletion Pathogenic rs377767444 GRCh37 Chromosome 5, 131705731: 131705733
38 SLC22A5 NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11568520 GRCh37 Chromosome 5, 131705715: 131705715
39 SLC22A5 NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11568520 GRCh38 Chromosome 5, 132370023: 132370023
40 SLC22A5 NM_003060.3(SLC22A5): c.67_69delTTC (p.Phe23del) deletion Pathogenic rs377767444 GRCh38 Chromosome 5, 132370039: 132370041
41 SLC22A5 NM_003060.3(SLC22A5): c.95A> G (p.Asn32Ser) single nucleotide variant Pathogenic rs72552725 GRCh37 Chromosome 5, 131705759: 131705759
42 SLC22A5 NM_003060.3(SLC22A5): c.95A> G (p.Asn32Ser) single nucleotide variant Pathogenic rs72552725 GRCh38 Chromosome 5, 132370067: 132370067
43 SLC22A5 NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu) single nucleotide variant Pathogenic/Likely pathogenic rs72552726 GRCh37 Chromosome 5, 131705912: 131705912
44 SLC22A5 NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu) single nucleotide variant Pathogenic/Likely pathogenic rs72552726 GRCh38 Chromosome 5, 132370220: 132370220
45 SLC22A5 NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser) single nucleotide variant Pathogenic/Likely pathogenic rs151231558 GRCh37 Chromosome 5, 131714100: 131714100
46 SLC22A5 NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser) single nucleotide variant Pathogenic/Likely pathogenic rs151231558 GRCh38 Chromosome 5, 132378408: 132378408
47 SLC22A5 NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs) deletion Pathogenic/Likely pathogenic rs386134195 GRCh37 Chromosome 5, 131714134: 131714135
48 SLC22A5 NM_003060.3(SLC22A5): c.458_459delTG (p.Val153Alafs) deletion Pathogenic/Likely pathogenic rs386134195 GRCh38 Chromosome 5, 132378442: 132378443
49 SLC22A5 NM_003060.3(SLC22A5): c.652+1G> A single nucleotide variant Pathogenic rs386134200 GRCh37 Chromosome 5, 131719994: 131719994
50 SLC22A5 NM_003060.3(SLC22A5): c.652+1G> A single nucleotide variant Pathogenic rs386134200 GRCh38 Chromosome 5, 132384302: 132384302

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ACADVL CPT2 ETFDH SLC25A20
2 mitochondrial membrane GO:0031966 9.16 ACADVL ETFDH
3 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 fatty acid metabolic process GO:0006631 9.49 ACADVL CPT2
2 fatty acid beta-oxidation GO:0006635 9.48 ACADVL CPT2
3 sodium-independent organic anion transport GO:0043252 9.46 SLC22A2 SLC22A5
4 organic anion transport GO:0015711 9.43 SLC22A2 SLC22A5
5 drug transmembrane transport GO:0006855 9.4 SLC22A2 SLC22A5
6 organic cation transport GO:0015695 9.37 SLC22A2 SLC22A5
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADVL ETFDH
8 carnitine shuttle GO:0006853 9.26 CPT2 SLC25A20
9 carnitine transport GO:0015879 9.16 SLC22A5 SLC25A20
10 quaternary ammonium group transport GO:0015697 8.96 SLC22A2 SLC22A5
11 carnitine transmembrane transport GO:1902603 8.62 SLC22A5 SLC25A20

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

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.4 ACADVL ETFDH
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.37 SLC22A2 SLC22A5
3 transmembrane transporter activity GO:0022857 9.33 SLC22A2 SLC22A5 SLC25A20
4 organic anion transmembrane transporter activity GO:0008514 9.32 SLC22A2 SLC22A5
5 inorganic anion exchanger activity GO:0005452 9.26 SLC22A2 SLC22A5
6 carnitine transmembrane transporter activity GO:0015226 8.96 SLC22A5 SLC25A20
7 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....