eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| carnitine-acylcarnitine translocase deficiency | ||||
| Disease ID | 1593 |
|---|---|
| Disease | carnitine-acylcarnitine translocase deficiency |
| Definition | Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme that prevents long-chain fatty acids from being transported into the innermost part of the mitochondria for processing. - Wikipedia Reference: https://en.wikipedia.org/wiki/carnitine-acylcarnitine translocase deficiency |
| Synonym | cact cact deficiency cactd carnitine acylcarnitine translocase deficiency carnitine acylcarnitine translocase deficiency (disorder) carnitine-acylcarnitine carrier deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C0342791 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SLC25A20 | 3p21.31 |
| Disease ID | 1593 |
|---|---|
| Disease | carnitine-acylcarnitine translocase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1593 |
|---|---|
| Disease | carnitine-acylcarnitine translocase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs151340616 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48862581 | G | A |
| rs28934589 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48859097 | T | C |
| rs28934589 | 15057979 | 788 | SLC25A20 | umls:C0342791 | UNIPROT | Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. | 0.481085767 | 2004 | SLC25A20 | 3 | 48859097 | T | C |
| rs541208710 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48884134 | A | C |
| rs577331691 | 15365988 | 788 | SLC25A20 | umls:C0342791 | UNIPROT | Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. | 0.481085767 | 2004 | SLC25A20 | 3 | 48859119 | C | G |
| rs587776759 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48857719 | - | G |
| rs587776760 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48898711 | A | - |
| rs587777286 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48859587 | C | T |
| rs587777287 | NA | 788 | SLC25A20 | umls:C0342791 | CLINVAR | NA | 0.481085767 | NA | SLC25A20 | 3 | 48892074 | T | A,C |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 3 | 48928759 | rs7621226 | NM_000387,SLC25A20 | ENST00000501573,ENSG00000246870 | ENST00000319017,ENSG00000178537 | ENST00000430379,ENSG00000178537 | ENST00000440964,ENSG00000178537 | NA | NA | chr3,48920001,48930000,chr17,3150001,3160000,30,Hi-C | chr3,48920001,48930000,chr3,48990001,49000000,5,Hi-C | chr3,48920001,48930000,chr3,48900001,48910000,6,Hi-C | NA | LM4,1.4538 | LM9,1.4281 | LM16,1.6162 | LM93,1.4163 | LM144,7.0778 | NA | NA | NA | NA | NA | NA | 0.025 | 0.170 | 0.131 | R4 | C | NA | NA | NA | NA | NA | NA | NA | NA |
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) |
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| (Waiting for update.) |
| Disease ID | 1593 |
|---|---|
| Disease | carnitine-acylcarnitine translocase deficiency |
| Case | (Waiting for update.) |