SLC25A13 gene related symptoms and diseases
All the information presented here about the SLC25A13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC25A13 gene
Symptoms // Phenotype | % Cases |
---|---|
Decreased liver function | Common - Between 50% and 80% cases |
Abnormality of the liver | Common - Between 50% and 80% cases |
Cholestasis | Common - Between 50% and 80% cases |
Hypertriglyceridemia | Common - Between 50% and 80% cases |
Intrahepatic cholestasis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SLC25A13 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hepatic steatosis
- Hepatic fibrosis
Not very common - Between 30% and 50% cases
- Coma
- Confusion
- Hyperammonemia
- Psychosis
- Hallucinations
- Lethargy
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC25A13 gene
Here you will find a list of rare diseases related to the SLC25A13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY
Alternate names
NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia, niccd
Description
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Most common symptoms of NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY
- Global developmental delay
- Growth delay
- Failure to thrive
- Anemia
- Hepatomegaly
More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY
CITRULLINEMIA TYPE II
Alternate names
CITRULLINEMIA TYPE II Is also known as ctln2, adult-onset citrin deficiency, citrullinemia type 2, adult-onset citrullinemia type ii, adult-onset citrullinemia type 2
Description
Citrullinemia type II is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
More info about CITRULLINEMIA TYPE II
SOURCES: ORPHANET
CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
Alternate names
CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency
Description
Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).
Most common symptoms of CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
- Seizures
- Tremor
- Edema
- Vomiting
- Diarrhea
More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
Search interest in SLC25A13
Potential gene panels for SLC25A13 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelSLC25A13 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC25A13 gene.
More info about this panelSLC25A13 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC25A13 gene.
More info about this panelSLC25A13 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC25A13 gene.
More info about this panelSLC25A13 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC25A13 gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelCholestasis Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cholestasis that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB4 JAG1
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelLiver Diseases Deletion/duplication panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panelSLC25A13 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC25A13 gene.
More info about this panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panelSLC25A13 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC25A13 gene.
More info about this panelUrea Cycle Disease Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Urea Cycle Disease Panel that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 CA5A NAGS GLUD1 ARG1 ASL ASS1 OTC
More info about this panelCitrin Deficiency (SLC25A13) Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the SLC25A13 gene.
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelSLC25A13 Gene Sequencing Panel
By GeneDx
This panel specifically test the SLC25A13 gene.
More info about this panelHyperammonaemia/Urea cycle disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Hyperammonaemia/Urea cycle disorders that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 NAGS GLUD1 ARG1 ASL MMUT ASS1 OAT
More info about this panelSLC25A13. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC25A13 gene.
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelCholestasis Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panelCholestasis Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panelCitrullinemia type II (sequence analysis of SLC25A13 gene) Panel
By CGC Genetics
This panel specifically test the SLC25A13 gene.
More info about this panelCitrin deficiency Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia type II Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia, adult-onset type II Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC25A13 gene.
More info about this panelCholestasis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4
More info about this panelHyperammonemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2
More info about this panelUrea Cycle Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Urea Cycle Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OAT OTC
More info about this panelSLC25A13-Related Disorders via SLC25A13 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC25A13 gene.
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelHepatic and pancreatic diseases - panels Panel
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panelCitrullinemia, type II (SLC25A13) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SLC25A13 gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelCitrin deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC25A13 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelCitrin Deficiency Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the SLC25A13 gene.
More info about this panelUrea Cycle Disorder Panel
By Asper Biogene Asper Biogene LLC Urea Cycle Disorder that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 NAGS ARG1 ASL ASS1 OAT OTC
More info about this panelCitrin deficiency, SLC25A13 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SLC25A13 gene.
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Urea Cycle Disorders Panel Panel
By Invitae Invitae Urea Cycle Disorders Panel that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OAT OTC ALDH18A1
More info about this panelInvitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panelInvitae Elevated Citrulline Panel Panel
By Invitae Invitae Elevated Citrulline Panel that also includes the following genes: SLC25A13 ASL ASS1 PC
More info about this panelInvitae Treatable Neurometabolic Disorders Panel Panel
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panelCitrullinemia type 2: SLC25A13 gene screening Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia type 2: SLC25A13 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC25A13 gene.
More info about this panelUREA CYCLE DISORDERS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases UREA CYCLE DISORDERS that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panelUrea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) Panel
By DLE - Diagnosticos Laboratoriais Especializados Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelCholestasis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Cholestasis NGS Panel that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB11 ABCB4 JAG1 SERPINA1
More info about this panelSLC25A13 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC25A13 gene.
More info about this panelHyperammonemia and Urea Cycle Disorder Panel Panel
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panelCholestasis Panel Panel
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelCitrullinemia, adult-onset type II Panel
By Bioarray
This panel specifically test the SLC25A13 gene.
More info about this panelBaby Genes Targeted Panel Panel
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panelCITRULLINEMIA TYPE 2 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC25A13 gene.
More info about this panelCHOLESTASIS, NEONATAL INTRAHEPATIC (WITH CITRIN DEFICIENCY ) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC25A13 gene.
More info about this panelUREA CYCLE DISORDERS: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL UREA CYCLE DISORDERS: NGS PANEL that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panelCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL that also includes the following genes: SLC25A13 TJP2 ATP8B1 ABCB11 ABCB4 NR1H4
More info about this panelCitrullinemia Type 2, Sequencing SLC25A13 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia Type 2, Screening Mutations SLC25A13 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC25A13 gene.
More info about this panelUrea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCitrullinemia types 1 and 2: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia types 1 and 2: gene sequencing panel (RAPID testing) that also includes the following genes: SLC25A13 ASS1
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelNeonatal onset citrullinemia Type II: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia: gene sequencing panel (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia: gene sequencing panel (Rapid testing) that also includes the following genes: SLC25A13 ARG1 ASL ASS1
More info about this panelAdult-onset citrullinemia Type II: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SLC25A13 gene.
More info about this panelCitrullinemia: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia: gene sequencing panel (RAPID testing) that also includes the following genes: SLC25A13 ARG1 ASL ASS1
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