CDSP
MCID: CRN239
MIFTS: 54

Carnitine Deficiency, Systemic Primary (CDSP)

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

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

MalaCards integrated aliases for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 58 13 41
Systemic Primary Carnitine Deficiency 25 54 60 76 38
Renal Carnitine Transport Defect 12 26 30 6 74
Carnitine Uptake Defect 58 12 25 54 26
Carnitine Transporter Deficiency 12 77 54 26
Systemic Carnitine Deficiency 58 77 26 45
Cdsp 58 25 60 76
Primary Carnitine Deficiency 12 54 26
Carnitine Uptake Deficiency 54 26 60
Cud 58 26 60
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 58 54
Deficiency of Plasma-Membrane Carnitine Transporter 12 60
Systemic Primary Carnitine Deficiency Disease 12 15
Carnitine Deficiency, Primary 58 56
Carnitine Transporter, Plasma-Membrane, Deficiency of 58
Carnitine Plasma-Membrane Transporter Deficiency 54
Systemic Carnitine Deficiency; Scd 58
Carnitine Uptake Defect; Cud 58
Carnitine Transporter Defect 60
Carnitine Transport Defect 25
Spcd 60
Scd 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carnitine Deficiency, Systemic Primary

OMIM : 58 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 crohn's disease and atrial standstill 1, 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 Phospholipase D signaling pathway 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 hepatomegaly and vomiting

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 : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Systemic primary carnitine deficiency (SPCD), is an inborn error of fatty acid transport caused by a... more...

GeneReviews: NBK84551

Related Diseases for Carnitine Deficiency, Systemic Primary

Diseases related to Carnitine Deficiency, Systemic Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 crohn's disease 29.6 SLC22A4 SLC22A5
2 atrial standstill 1 29.4 ACADVL SLC22A5
3 hypoglycemia 28.9 ACADVL CPT2
4 sickle cell disease 12.3
5 schnyder corneal dystrophy 11.7
6 ehlers-danlos syndrome, spondylodysplastic type, 3 11.7
7 cardiac conduction defect 11.5
8 sickle cell anemia 11.3
9 qt interval, variation in 11.3
10 diabetes mellitus, noninsulin-dependent 11.2
11 fanconi anemia, complementation group d2 11.2
12 lipodystrophy, congenital generalized, type 4 11.2
13 lipodystrophy, congenital generalized, type 3 11.2
14 body mass index quantitative trait locus 11 11.2
15 hemoglobinopathy 11.1
16 fanconi anemia, complementation group a 11.1
17 superior semicircular canal dehiscence 11.1
18 subacute cerebellar degeneration 11.1
19 semicircular canal dehiscence syndrome 11.1
20 rere-related disorders 10.4
21 visceral steatosis 10.3
22 renal oncocytoma 10.2
23 reye syndrome 10.1
24 inflammatory bowel disease 5 10.0 SLC22A4 SLC22A5
25 beta-thalassemia 10.0
26 spinal stenosis 10.0
27 thalassemia 10.0
28 disease of mental health 10.0
29 infertility 10.0
30 spinocerebellar degeneration 10.0
31 inflammatory bowel disease 1 10.0 SLC22A4 SLC22A5
32 peripheral nervous system disease 9.9
33 neuropathy 9.9
34 glycogen storage disease 9.9
35 inherited metabolic disorder 9.9
36 holocarboxylase synthetase deficiency 9.9
37 aplasia cutis congenita, nonsyndromic 9.9
38 blood group, kidd system 9.9
39 prostate cancer 9.9
40 autism 9.9
41 prostate cancer, hereditary, 8 9.9
42 myocardial infarction 9.9
43 prostate cancer, hereditary, 6 9.9
44 speech and communication disorders 9.9
45 hematopoietic stem cell transplantation 9.9
46 male infertility 9.9
47 rabies 9.9
48 heart disease 9.9
49 graves' disease 9.9
50 dementia 9.9

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

Human phenotypes related to Carnitine Deficiency, Systemic Primary:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
2 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
3 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
4 confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0001289
5 generalized tonic-clonic seizures with focal onset 60 33 hallmark (90%) Very frequent (99-80%) HP:0007334
6 clumsiness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002312
7 neck muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000467
8 acute encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006846
9 muscle weakness 60 33 Very frequent (99-80%) HP:0001324
10 muscular hypotonia 33 HP:0001252
11 failure to thrive 33 HP:0001508
12 myopathy 33 HP:0003198
13 cardiomegaly 33 HP:0001640
14 hypertrophic cardiomyopathy 33 HP:0001639
15 hypoglycemia 33 HP:0001943
16 congestive heart failure 33 HP:0001635
17 hepatic steatosis 33 HP:0001397
18 coma 33 HP:0001259
19 hyperammonemia 33 HP:0001987
20 lethargy 33 HP:0001254
21 generalized hypotonia 33 HP:0001290
22 encephalopathy 33 HP:0001298
23 recurrent hypoglycemia 33 HP:0001988
24 excessive daytime somnolence 33 HP:0001262
25 endocardial fibroelastosis 33 HP:0001706
26 decreased plasma carnitine 33 HP:0003234
27 impaired gluconeogenesis 33 HP:0005959
28 reduced muscle carnitine level 33 HP:0030362
29 decreased carnitine level in liver 33 HP:0045061

Symptoms via clinical synopsis from OMIM:

58
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

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

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 L-carnitine for Fatigue in COPD Completed NCT03008356 Phase 2, Phase 3
3 Early Administration of L-carnitine in Hemodialysis Patients Completed NCT00322322 Phase 3 L-Carnitine
4 Levocarnitine in Treating Fatigue in Cancer Patients Completed NCT00091169 Phase 3
5 Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants Active, not recruiting NCT01783041 Phase 2, Phase 3 L-carnitine;5% Dextrose
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 Not Applicable
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 Not Applicable 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 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 30 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

42
Heart, Liver, Kidney, Brain, Skeletal Muscle, Prostate, Bone

Publications for Carnitine Deficiency, Systemic Primary

Articles related to Carnitine Deficiency, Systemic Primary:

(show all 27)
# Title Authors Year
1
A case of atypical systemic primary carnitine deficiency in Saudi Arabia. ( 30069296 )
2018
2
SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management. ( 29750726 )
2018
3
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency]. ( 28186590 )
2017
4
Systemic primary carnitine deficiency with hypoglycemic encephalopathy. ( 28164076 )
2016
5
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. ( 25132046 )
2014
6
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. ( 23090741 )
2012
7
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. ( 22989098 )
2012
8
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. ( 20027113 )
2010
9
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. ( 17594400 )
2007
10
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. ( 15714519 )
2005
11
OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? ( 15303004 )
2004
12
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. ( 12204000 )
2002
13
Phenotype and genotype variation in primary carnitine deficiency. ( 11715001 )
2001
14
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. ( 11058897 )
2000
15
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
16
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. ( 10072434 )
1999
17
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. ( 10480371 )
1999
18
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. ( 9916797 )
1999
19
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. ( 10051646 )
1999
20
Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. ( 9826541 )
1998
21
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation. ( 9700600 )
1998
22
Dilated cardiomyopathy caused by plasma membrane carnitine transport defect. ( 9700603 )
1998
23
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. ( 9634512 )
1998
24
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. ( 2235122 )
1990
25
Primary carnitine deficiency. ( 2199596 )
1990
26
Cardiomyopathy associated with carnitine loss in kidneys and small intestine. ( 3215194 )
1988
27
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. ( 3974805 )
1985

Variations for Carnitine Deficiency, Systemic Primary

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

76 (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 rs117858418
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 rs145725852
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 rs138563439
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 rs140816634
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 rs115719854
50 SLC22A5 p.Ser26Asn VAR_066843 rs772578415

ClinVar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (show top 50) (show all 555)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A5 NM_003060.3(SLC22A5): c.1645C> T (p.Pro549Ser) single nucleotide variant Benign/Likely benign rs11568525 GRCh38 Chromosome 5, 132394243: 132394243
2 SLC22A5 NM_003060.3(SLC22A5): c.*47C> T single nucleotide variant Benign/Likely benign rs1045020 GRCh37 Chromosome 5, 131730011: 131730011
3 SLC22A5 NM_003060.3(SLC22A5): c.*47C> T single nucleotide variant Benign/Likely benign rs1045020 GRCh38 Chromosome 5, 132394319: 132394319
4 SLC22A5 NM_003060.3(SLC22A5): c.71delT (p.Leu24Argfs) deletion Pathogenic/Likely pathogenic rs775502377 GRCh37 Chromosome 5, 131705735: 131705735
5 SLC22A5 NM_003060.3(SLC22A5): c.71delT (p.Leu24Argfs) deletion Pathogenic/Likely pathogenic rs775502377 GRCh38 Chromosome 5, 132370043: 132370043
6 SLC22A5 NM_003060.3(SLC22A5): c.*1244C> T single nucleotide variant Uncertain significance rs184494469 GRCh37 Chromosome 5, 131731208: 131731208
7 SLC22A5 NM_003060.3(SLC22A5): c.*1244C> T single nucleotide variant Uncertain significance rs184494469 GRCh38 Chromosome 5, 132395516: 132395516
8 SLC22A5 NM_003060.3(SLC22A5): c.*1020C> G single nucleotide variant Uncertain significance rs886059915 GRCh37 Chromosome 5, 131730984: 131730984
9 SLC22A5 NM_003060.3(SLC22A5): c.*1020C> G single nucleotide variant Uncertain significance rs886059915 GRCh38 Chromosome 5, 132395292: 132395292
10 SLC22A5 NM_003060.3(SLC22A5): c.*678G> T single nucleotide variant Uncertain significance rs148673968 GRCh38 Chromosome 5, 132394950: 132394950
11 SLC22A5 NM_003060.3(SLC22A5): c.*678G> T single nucleotide variant Uncertain significance rs148673968 GRCh37 Chromosome 5, 131730642: 131730642
12 SLC22A5 NM_003060.3(SLC22A5): c.1380C> T (p.Asn460=) single nucleotide variant Likely benign rs149521997 GRCh37 Chromosome 5, 131728237: 131728237
13 SLC22A5 NM_003060.3(SLC22A5): c.*424T> C single nucleotide variant Uncertain significance rs886059912 GRCh38 Chromosome 5, 132394696: 132394696
14 SLC22A5 NM_003060.3(SLC22A5): c.*424T> C single nucleotide variant Uncertain significance rs886059912 GRCh37 Chromosome 5, 131730388: 131730388
15 SLC22A5 NM_003060.3(SLC22A5): c.*417T> A single nucleotide variant Uncertain significance rs886059911 GRCh38 Chromosome 5, 132394689: 132394689
16 SLC22A5 NM_003060.3(SLC22A5): c.*417T> A single nucleotide variant Uncertain significance rs886059911 GRCh37 Chromosome 5, 131730381: 131730381
17 SLC22A5 NM_003060.3(SLC22A5): c.*195G> T single nucleotide variant Uncertain significance rs886059910 GRCh38 Chromosome 5, 132394467: 132394467
18 SLC22A5 NM_003060.3(SLC22A5): c.*195G> T single nucleotide variant Uncertain significance rs886059910 GRCh37 Chromosome 5, 131730159: 131730159
19 SLC22A5 NM_003060.3(SLC22A5): c.*5G> A single nucleotide variant Uncertain significance rs554373076 GRCh38 Chromosome 5, 132394277: 132394277
20 SLC22A5 NM_003060.3(SLC22A5): c.*5G> A single nucleotide variant Uncertain significance rs554373076 GRCh37 Chromosome 5, 131729969: 131729969
21 SLC22A5 NM_003060.3(SLC22A5): c.980A> C (p.Gln327Pro) single nucleotide variant Uncertain significance rs886059908 GRCh38 Chromosome 5, 132388949: 132388949
22 SLC22A5 NM_003060.3(SLC22A5): c.980A> C (p.Gln327Pro) single nucleotide variant Uncertain significance rs886059908 GRCh37 Chromosome 5, 131724641: 131724641
23 SLC22A5 NM_003060.3(SLC22A5): c.763G> A (p.Asp255Asn) single nucleotide variant Uncertain significance rs774619135 GRCh38 Chromosome 5, 132385438: 132385438
24 SLC22A5 NM_003060.3(SLC22A5): c.763G> A (p.Asp255Asn) single nucleotide variant Uncertain significance rs774619135 GRCh37 Chromosome 5, 131721130: 131721130
25 SLC22A5 NM_003060.3(SLC22A5): c.-25C> T single nucleotide variant Uncertain significance rs886059907 GRCh38 Chromosome 5, 132369948: 132369948
26 SLC22A5 NM_003060.3(SLC22A5): c.-25C> T single nucleotide variant Uncertain significance rs886059907 GRCh37 Chromosome 5, 131705640: 131705640
27 SLC22A5 NM_003060.3(SLC22A5): c.523G> A (p.Val175Met) single nucleotide variant Conflicting interpretations of pathogenicity rs781721860 GRCh38 Chromosome 5, 132384172: 132384172
28 SLC22A5 NM_003060.3(SLC22A5): c.523G> A (p.Val175Met) single nucleotide variant Conflicting interpretations of pathogenicity rs781721860 GRCh37 Chromosome 5, 131719864: 131719864
29 SLC22A5 NM_003060.3(SLC22A5): c.1365dup (p.Thr456Hisfs) duplication Pathogenic rs878853248 GRCh38 Chromosome 5, 132392530: 132392530
30 SLC22A5 NM_003060.3(SLC22A5): c.1365dup (p.Thr456Hisfs) duplication Pathogenic rs878853248 GRCh37 Chromosome 5, 131728222: 131728222
31 SLC22A5 NM_003060.3(SLC22A5): c.659A> T (p.Glu220Val) single nucleotide variant Likely pathogenic rs878853249 GRCh37 Chromosome 5, 131721026: 131721026
32 SLC22A5 NM_003060.3(SLC22A5): c.659A> T (p.Glu220Val) single nucleotide variant Likely pathogenic rs878853249 GRCh38 Chromosome 5, 132385334: 132385334
33 SLC22A5 NM_003060.3(SLC22A5): c.1451G> T (p.Gly484Val) single nucleotide variant Uncertain significance rs28383480 GRCh38 Chromosome 5, 132393676: 132393676
34 SLC22A5 NM_003060.3(SLC22A5): c.1451G> T (p.Gly484Val) single nucleotide variant Uncertain significance rs28383480 GRCh37 Chromosome 5, 131729368: 131729368
35 SLC22A5 NM_003060.3(SLC22A5): c.614T> A (p.Met205Lys) single nucleotide variant Uncertain significance rs796052033 GRCh38 Chromosome 5, 132384263: 132384263
36 SLC22A5 NM_003060.3(SLC22A5): c.614T> A (p.Met205Lys) single nucleotide variant Uncertain significance rs796052033 GRCh37 Chromosome 5, 131719955: 131719955
37 SLC22A5 NM_003060.3(SLC22A5): c.136C> T (p.Pro46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs202088921 GRCh38 Chromosome 5, 132370108: 132370108
38 SLC22A5 NM_003060.3(SLC22A5): c.136C> T (p.Pro46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs202088921 GRCh37 Chromosome 5, 131705800: 131705800
39 SLC22A5 NM_003060.3(SLC22A5): c.824+13T> C single nucleotide variant Benign rs274557 GRCh38 Chromosome 5, 132385512: 132385512
40 SLC22A5 NM_003060.3(SLC22A5): c.824+13T> C single nucleotide variant Benign rs274557 GRCh37 Chromosome 5, 131721204: 131721204
41 SLC22A5 NM_003060.3(SLC22A5): c.807A> G (p.Leu269=) single nucleotide variant Benign rs274558 GRCh38 Chromosome 5, 132385482: 132385482
42 SLC22A5 NM_003060.3(SLC22A5): c.807A> G (p.Leu269=) single nucleotide variant Benign rs274558 GRCh37 Chromosome 5, 131721174: 131721174
43 SLC22A5 NM_003060.3(SLC22A5): c.285T> C (p.Leu95=) single nucleotide variant Benign rs2631365 GRCh38 Chromosome 5, 132370257: 132370257
44 SLC22A5 NM_003060.3(SLC22A5): c.285T> C (p.Leu95=) single nucleotide variant Benign rs2631365 GRCh37 Chromosome 5, 131705949: 131705949
45 SLC22A5 NM_003060.3(SLC22A5): c.1645C> T (p.Pro549Ser) single nucleotide variant Benign/Likely benign rs11568525 GRCh37 Chromosome 5, 131729935: 131729935
46 SLC22A5 NM_003060.3(SLC22A5): c.1587-38A> C single nucleotide variant not provided rs11568523 GRCh38 Chromosome 5, 132394147: 132394147
47 SLC22A5 NM_003060.3(SLC22A5): c.1587-38A> C single nucleotide variant not provided rs11568523 GRCh37 Chromosome 5, 131729839: 131729839
48 SLC22A5 NM_003060.3(SLC22A5): c.1586+1G> T single nucleotide variant not provided rs386134226 GRCh38 Chromosome 5, 132393812: 132393812
49 SLC22A5 NM_003060.3(SLC22A5): c.1586+1G> T single nucleotide variant not provided rs386134226 GRCh37 Chromosome 5, 131729504: 131729504
50 SLC22A5 NM_003060.3(SLC22A5): c.1556_1559dupACAC (p.Ile521Hisfs) duplication Pathogenic/Likely pathogenic rs386134225 GRCh38 Chromosome 5, 132393781: 132393784

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
11.19 SLC22A2 SLC22A4 SLC22A5
2
Show member pathways
11.14 ACADVL CPT2
3
Show member pathways
10.68 ACADVL CPT2

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 SLC22A4
2 mitochondrial membrane GO:0031966 9.16 ACADVL ETFDH
3 mitochondrial inner membrane GO:0005743 8.8 ACADVL CPT2 ETFDH

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.65 SLC22A2 SLC22A4 SLC22A5
2 transmembrane transport GO:0055085 9.63 SLC22A2 SLC22A4 SLC22A5
3 fatty acid metabolic process GO:0006631 9.51 ACADVL CPT2
4 sodium ion transport GO:0006814 9.49 SLC22A4 SLC22A5
5 fatty acid beta-oxidation GO:0006635 9.43 ACADVL CPT2
6 drug transmembrane transport GO:0006855 9.4 SLC22A2 SLC22A5
7 organic cation transport GO:0015695 9.37 SLC22A2 SLC22A4
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ETFDH ACADVL
9 body fluid secretion GO:0007589 9.26 SLC22A2 SLC22A4
10 carnitine transport GO:0015879 9.16 SLC22A4 SLC22A5
11 quaternary ammonium group transport GO:0015697 8.96 SLC22A4 SLC22A5
12 carnitine transmembrane transport GO:1902603 8.62 SLC22A5 SLC22A4

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.4 SLC22A4 SLC22A5
2 PDZ domain binding GO:0030165 9.37 SLC22A4 SLC22A5
3 transmembrane transporter activity GO:0022857 9.33 SLC22A2 SLC22A4 SLC22A5
4 transporter activity GO:0005215 9.32 SLC22A4 SLC22A5
5 flavin adenine dinucleotide binding GO:0050660 9.26 ACADVL ETFDH
6 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A4 SLC22A5
7 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A4 SLC22A5

Sources for Carnitine Deficiency, Systemic Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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