MCID: CRN239
MIFTS: 39

Carnitine Deficiency, Systemic Primary malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Nephrological diseases categories

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

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Carnitine Deficiency, Systemic Primary, Aliases & Descriptions:

Name: Carnitine Deficiency, Systemic Primary 45 10
Renal Carnitine Transport Defect 9 21 22 60
Carnitine Uptake Defect 9 19 41 21
Cud 19 41 21 47
Deficiency of Plasma-Membrane Carnitine Transporter 9 41 47
Primary Systemic Carnitine Deficiency 41 20 47
Systemic Primary Carnitine Deficiency 19 41 47
Carnitine Transporter Deficiency 9 41 21
Primary Carnitine Deficiency 9 41 21
 
Carnitine Uptake Deficiency 41 21 47
Systemic Primary Carnitine Deficiency Disease 9 11
Carnitine Transporter Defect 41 47
Pcd 41 47
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 41
Carnitine Plasma-Membrane Transporter Deficiency 41
Carnitine Deficiency, Primary 43
Systemic Carnitine Deficiency 21
Cdsp 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
cud:
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


External Ids:

OMIM45 212140
Disease Ontology9 DOID:14365
MeSH33 C536778
SNOMED-CT55 21764004
ICD9CM27 277.81
Orphanet47 158
ICD10 via Orphanet26 E71.3

Summaries for Carnitine Deficiency, Systemic Primary

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OMIM:45 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 renal carnitine transport defect, is related to primary ciliary dyskinesia and reye syndrome, and has symptoms including autosomal recessive inheritance, muscular hypotonia and lethargy. An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5). Affiliated tissues include heart, brain and skeletal muscle, and related mouse phenotype liver/biliary system.

Disease Ontology:9 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:21 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:41 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

Wikipedia:63 Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine... more...

GeneReviews summary for cdsp

Related Diseases for Carnitine Deficiency, Systemic Primary

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



Diseases related to carnitine deficiency, systemic primary

Symptoms for Carnitine Deficiency, Systemic Primary

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Symptoms by clinical synopsis from OMIM:

212140

Clinical features from OMIM:

212140

HPO human phenotypes related to Carnitine Deficiency, Systemic Primary:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscular hypotonia HP:0001252
3 lethargy HP:0001254
4 coma HP:0001259
5 somnolence HP:0001262
6 confusion HP:0001289
7 encephalopathy HP:0001298
8 muscle weakness HP:0001324
9 hepatic steatosis HP:0001397
10 failure to thrive HP:0001508
11 congestive heart failure HP:0001635
12 hypertrophic cardiomyopathy HP:0001639
13 cardiomegaly HP:0001640
14 endocardial fibroelastosis HP:0001706
15 hyperammonemia HP:0001987
16 recurrent hypoglycemia HP:0001988
17 vomiting HP:0002013
18 hepatomegaly HP:0002240
19 elevated hepatic transaminases HP:0002910
20 myopathy HP:0003198
21 impaired gluconeogenesis HP:0005959

Drugs & Therapeutics for Carnitine Deficiency, Systemic Primary

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Drug clinical trials:

Search ClinicalTrials for Carnitine Deficiency, Systemic Primary

Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary

Genetic Tests for Carnitine Deficiency, Systemic Primary

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Genetic tests related to Carnitine Deficiency, Systemic Primary:

id Genetic test Affiliating Genes
1 Systemic Primary Carnitine Deficiency20 SLC22A5
2 Renal Carnitine Transport Defect22

Anatomical Context for Carnitine Deficiency, Systemic Primary

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

31
Heart, Brain, Skeletal muscle, Kidney, Liver

Animal Models for Carnitine Deficiency, Systemic Primary or affiliated genes

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MGI Mouse Phenotypes related to Carnitine Deficiency, Systemic Primary:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SLC22A5, SCD

Publications for Carnitine Deficiency, Systemic Primary

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Variations for Carnitine Deficiency, Systemic Primary

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

62 (show all 49)
id Symbol AA change Variation ID SNP ID
1SLC22A5p.Arg169GlnVAR_009252
2SLC22A5p.Tyr211CysVAR_009253
3SLC22A5p.Trp283ArgVAR_009254
4SLC22A5p.Val446PheVAR_009255
5SLC22A5p.Glu452LysVAR_009256
6SLC22A5p.Pro478LeuVAR_009257
7SLC22A5p.Phe17LeuVAR_020347
8SLC22A5p.Met179LeuVAR_022564
9SLC22A5p.Trp283CysVAR_022565
10SLC22A5p.Ser467CysVAR_022566rs60376624
11SLC22A5p.Tyr449AspVAR_029315rs11568514
12SLC22A5p.Gly12SerVAR_064109rs139203363
13SLC22A5p.Gly15TrpVAR_064110
14SLC22A5p.Arg19ProVAR_064111
15SLC22A5p.Asn32SerVAR_064112
16SLC22A5p.Pro46SerVAR_064113
17SLC22A5p.Arg83LeuVAR_064116
18SLC22A5p.Asp122TyrVAR_064118
19SLC22A5p.Ala142SerVAR_064120
20SLC22A5p.Arg169TrpVAR_064122
21SLC22A5p.Leu186ProVAR_064124
22SLC22A5p.Ala214ValVAR_064125
23SLC22A5p.Arg227HisVAR_064126rs185551386
24SLC22A5p.Thr232MetVAR_064128rs114269482
25SLC22A5p.Gly234ArgVAR_064129
26SLC22A5p.Gly242ValVAR_064131
27SLC22A5p.Arg257TrpVAR_064132
28SLC22A5p.Thr264ArgVAR_064133
29SLC22A5p.Arg282GlnVAR_064134
30SLC22A5p.Ala301AspVAR_064135
31SLC22A5p.Trp351ArgVAR_064137
32SLC22A5p.Ser355LeuVAR_064138
33SLC22A5p.Ser362LeuVAR_064140
34SLC22A5p.Pro398LeuVAR_064141
35SLC22A5p.Arg399GlnVAR_064142
36SLC22A5p.Arg399TrpVAR_064143
37SLC22A5p.Thr440MetVAR_064144
38SLC22A5p.Ala442IleVAR_064145
39SLC22A5p.Phe443ValVAR_064146
40SLC22A5p.Tyr447CysVAR_064147
41SLC22A5p.Pro455ArgVAR_064148
42SLC22A5p.Thr468ArgVAR_064149
43SLC22A5p.Arg471CysVAR_064150
44SLC22A5p.Arg488CysVAR_064151
45SLC22A5p.Leu507SerVAR_064152
46SLC22A5p.Ser26AsnVAR_066843
47SLC22A5p.Ser280PheVAR_066844
48SLC22A5p.Arg471ProVAR_066845
49SLC22A5p.Arg488HisVAR_066846rs28383481

Clinvar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC22A5NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu)single nucleotide variantPathogenicrs11568520GRCh37Chr 5, 131705715: 131705715
2SLC22A5NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu)single nucleotide variantPathogenicrs72552726GRCh37Chr 5, 131705912: 131705912
3SLC22A5NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser)single nucleotide variantPathogenicrs151231558GRCh37Chr 5, 131714100: 131714100
4SLC22A5NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met)single nucleotide variantPathogenicrs114269482GRCh37Chr 5, 131721062: 131721062
5SLC22A5NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs386134210GRCh37Chr 5, 131722737: 131722737
6SLC22A5NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu)single nucleotide variantPathogenicrs144547521GRCh37Chr 5, 131726522: 131726522
7SLC22A5NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys)single nucleotide variantPathogenicrs60376624GRCh37Chr 5, 131728257: 131728257
8SLC22A5NM_003060.3(SLC22A5): c.1463G> A (p.Arg488His)single nucleotide variantPathogenicrs28383481GRCh37Chr 5, 131729380: 131729380
9SLC22A5SLC22A5, 113-BP DELdeletionPathogenic
10SLC22A5SLC22A5, 1-BP INS, 226CinsertionPathogenic
11SLC22A5NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter)single nucleotide variantPathogenicrs72552727GRCh37Chr 5, 131714072: 131714072
12SLC22A5SLC22A5, IVS8AS, G-A, -1single nucleotide variantPathogenic
13SLC22A5SLC22A5, 1394-BP DELdeletionPathogenic
14SLC22A5SLC22A5, 19-BP INS, NT874insertionPathogenic
15SLC22A5SLC22A5, 171-BP DEL, NT875deletionPathogenic
16SLC22A5NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908886GRCh37Chr 5, 131722736: 131722736
17SLC22A5NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs)duplicationPathogenicrs121908887GRCh37Chr 5, 131726531: 131726532
18SLC22A5SLC22A5, 1-BP DEL, 1345GdeletionPathogenic
19SLC22A5NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu)single nucleotide variantPathogenicrs72552735GRCh37Chr 5, 131728290: 131728290
20SLC22A5NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys)single nucleotide variantPathogenicrs121908888GRCh37Chr 5, 131719973: 131719973
21SLC22A5NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs121908889GRCh37Chr 5, 131719847: 131719847
22SLC22A5NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp)single nucleotide variantPathogenicrs121908890GRCh37Chr 5, 131719846: 131719846
23SLC22A5NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg)single nucleotide variantPathogenicrs68018207GRCh37Chr 5, 131724712: 131724712
24SLC22A5NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln)single nucleotide variantPathogenicrs121908891GRCh37Chr 5, 131726525: 131726525
25SLC22A5NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs121908892GRCh37Chr 5, 131705667: 131705667
26SLC22A5NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter)single nucleotide variantPathogenicrs121908893GRCh37Chr 5, 131721127: 131721127
27SLC22A5NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp)single nucleotide variantPathogenicrs267607054GRCh37Chr 5, 131726524: 131726524
28SLC22A5NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile)indelPathogenicrs267607053GRCh37Chr 5, 131728181: 131728182
29SLC22A5NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp)single nucleotide variantPathogenicrs267607052GRCh37Chr 5, 131705707: 131705707

Expression for genes affiliated with Carnitine Deficiency, Systemic Primary

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

Pathways for genes affiliated with Carnitine Deficiency, Systemic Primary

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Compounds for genes affiliated with Carnitine Deficiency, Systemic Primary

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GO Terms for genes affiliated with Carnitine Deficiency, Systemic Primary

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Products for genes affiliated with Carnitine Deficiency, Systemic Primary

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Sources for Carnitine Deficiency, Systemic Primary

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet