eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| carnitine deficiency, systemic primary | ||||
| Disease ID | 1996 |
|---|---|
| Disease | carnitine deficiency, systemic primary |
| Definition | An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. |
| Synonym | carnitine deficiency carnitine deficiency, primary carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine carnitine transporter deficiency carnitine transporter, plasma-membrane, deficiency of carnitine uptake defect carnitine uptake deficiency cdsp primary carnitine deficiency primary carnitine defncy renal carnitine transport defect renal carnitine transport defect (disorder) systemic carnitine deficiency systemic primary carnitine deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0342788 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0878544 | cardiomyopathy | 3 C0007193 | dilated cardiomyopathy | 2 C0026848 | myopathy | 2 C0035078 | renal failure | 1 C0002736 | amyotrophic lateral sclerosis | 1 C0011570 | depression | 1 C0018801 | heart failure | 1 C0020619 | hypogonadism | 1 C0023976 | long qt syndrome | 1 C0022661 | end-stage renal failure | 1 C0268596 | glutaric aciduria type ii | 1 C0015674 | chronic fatigue syndrome | 1 C0006112 | metabolic encephalopathy | 1 C0023890 | cirrhosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1996 |
|---|---|
| Disease | carnitine deficiency, systemic primary |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0001298 | Encephalopathy | 5 HP:0001638 | Cardiomyopathy | 3 HP:0001644 | Congestive cardiomyopathy | 2 HP:0003198 | Myopathic changes | 2 HP:0012432 | Chronic fatigue | 1 HP:0001263 | Developmental retardation | 1 HP:0000135 | Hypogonadism | 1 HP:0001939 | Laboratory abnormality | 1 HP:0001987 | Hyperammonemia | 1 HP:0007354 | Amyotrophic lateral sclerosis | 1 HP:0012072 | Aciduria | 1 HP:0001657 | Prolonged QT interval | 1 HP:0012378 | Fatigue | 1 HP:0001635 | Congestive heart failure | 1 HP:0000083 | Renal insufficiency | 1 HP:0000716 | Depression | 1 HP:0003150 | Glutaric aciduria | 1 HP:0001394 | Hepatic cirrhosis | 1 HP:0003774 | End-stage renal failure | 1 |
| Disease ID | 1996 |
|---|---|
| Disease | carnitine deficiency, systemic primary |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0085584 | encephalopathy | 5 C0878544 | cardiomyopathy | 3 C0007193 | dilated cardiomyopathy | 2 C0026848 | myopathy | 2 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:48) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs114269482 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132385370 | C | T |
| rs114269482 | 21922592 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. | 0.56434307 | 2012 | SLC22A5 | 5 | 132385370 | C | T |
| rs11568514 | 20574985 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. | 0.56434307 | 2010 | SLC22A5 | 5 | 132392510 | T | G |
| rs11568514 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392510 | T | G |
| rs11568520 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370023 | C | G |
| rs121908886 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132387044 | C | T |
| rs121908887 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132390839 | - | A |
| rs121908888 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132384281 | A | G |
| rs121908889 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132384155 | G | A |
| rs121908890 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132384154 | C | T |
| rs121908891 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132390833 | G | A |
| rs121908892 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132369975 | G | T |
| rs121908893 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132385435 | C | A,T |
| rs121908893 | 17703373 | 6584 | SLC22A5 | umls:C0342788 | BeFree | Additional molecular investigations identified two mutations (R254X and IVS3 + 1G > A) in the patient's OCTN2 (SLC22A5) gene, consistent with a diagnosis of primary carnitine deficiency due to carnitine transporter defect. | 0.56434307 | 2007 | SLC22A5 | 5 | 132385435 | C | A,T |
| rs121908893 | 20074989 | 6584 | SLC22A5 | umls:C0342788 | BeFree | Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. | 0.56434307 | 2010 | SLC22A5 | 5 | 132385435 | C | A,T |
| rs139203363 | 20574985 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. | 0.56434307 | 2010 | SLC22A5;LOC553103 | 5 | 132370006 | G | A |
| rs139203363 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370006 | G | A |
| rs144547521 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132390830 | C | T |
| rs151231558 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132378408 | G | A,T |
| rs185551386 | 20574985 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. | 0.56434307 | 2010 | SLC22A5 | 5 | 132385355 | G | A |
| rs201082652 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370336 | G | T |
| rs202088921 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370108 | C | G,T |
| rs267607052 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370015 | G | T |
| rs267607053 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | NA | NA | NA | NA | NA |
| rs267607054 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132390832 | C | T |
| rs28383481 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132393688 | G | A |
| rs28383481 | 21922592 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. | 0.56434307 | 2012 | SLC22A5 | 5 | 132393688 | G | A |
| rs377724489 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132378376 | A | C,T |
| rs377767449 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370236 | - | GGCTCGCCACC |
| rs386134195 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132378442 | TG | - |
| rs386134199 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132384290 | C | T |
| rs386134203 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132385444 | C | G,T |
| rs386134210 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132387045 | G | A |
| rs386134212 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132387065 | C | T |
| rs386134215 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132390818 | TGC | - |
| rs386134218 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392505 | A | G |
| rs386134221 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392568 | C | A,G |
| rs386134225 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132393784 | - | ACAC |
| rs60376624 | 21922592 | 6584 | SLC22A5 | umls:C0342788 | UNIPROT | Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. | 0.56434307 | 2012 | SLC22A5 | 5 | 132392565 | C | G |
| rs60376624 | 20074989 | 6584 | SLC22A5 | umls:C0342788 | BeFree | Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. | 0.56434307 | 2010 | SLC22A5 | 5 | 132392565 | C | G |
| rs60376624 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392565 | C | G |
| rs68018207 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132389020 | T | C |
| rs72552726 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5;LOC553103 | 5 | 132370220 | G | T |
| rs72552727 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132378380 | G | A |
| rs72552732 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392484 | C | T |
| rs72552734 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392519 | G | A |
| rs72552735 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392598 | C | T |
| rs786205079 | NA | 6584 | SLC22A5 | umls:C0342788 | CLINVAR | NA | 0.56434307 | NA | SLC22A5 | 5 | 132392469 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1996 |
|---|---|
| Disease | carnitine deficiency, systemic primary |
| Case | (Waiting for update.) |