SLC25A15 gene related symptoms and diseases

All the information presented here about the SLC25A15 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.

Rare diseases associated to SLC25A15 gene

Here you will find a list of rare diseases related to the SLC25A15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

Alternate names

HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME Is also known as hhhs, hhh syndrome, triple h syndrome, ornithine translocase deficiency, hhh, ornithine carrier deficiency, ornt1 deficiency

Description

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.


More info about HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

SOURCES: ORPHANET


Potential gene panels for SLC25A15 gene

MitoMet®Plus aCGH Analysis Panel

United States.

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 panel
United States.

SLC25A15 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A15 gene.

More info about this panel
United States.

SLC25A15 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A15 gene.

More info about this panel
United States.

SLC25A15 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A15 gene.

More info about this panel
United States.

SLC25A15 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A15 gene.

More info about this panel
United States.

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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 panel
United States.

GeneAware Complete Panel Version 2 (Male) Panel

United States.

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 panel
United States.

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

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 panel
United States.

Urea Cycle Disease Panel Panel

Argentina.

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 panel
Argentina.

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

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 panel
United States.

Hyperammonaemia/Urea cycle disorders Panel

United Kingdom.

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 panel
United Kingdom.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (sequence analysis of SLC25A15 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC25A15 gene.

More info about this panel
Portugal.

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the SLC25A15 gene.

More info about this panel
Germany.

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Urea Cycle Disorders Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

More info about this panel
Germany.

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

More info about this panel
Germany.

Comprehensive mitochondrial disorders panel Panel

Germany.

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 panel
Germany.

Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC25A15 gene.

More info about this panel
Germany.

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

More info about this panel
Germany.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel
Germany.

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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 panel
Germany.

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel
Germany.

Single gene testing SLC25A15 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC25A15 gene.

More info about this panel
Germany.

Urea Cycle Disorder Panel

Estonia.

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 panel
Estonia.

Hyperornithinemia-Hyperammonemia-Homocitrullinemina Syndrom Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC25A15 gene.

More info about this panel
Austria.

Hyperornithinemia-Hyperammonemia-Homocitrullinemina Syndrom Panel

Slovakia.

By MedGene

This panel specifically test the SLC25A15 gene.

More info about this panel
Slovakia.

Invitae Urea Cycle Disorders Panel Panel

United States.

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 panel
United States.

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

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 panel
United States.

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

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 panel
United States.

UREA CYCLE DISORDERS Panel

Spain.

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 panel
Spain.

FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel
Spain.

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

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 panel
United States.

Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) Panel

Brazil.

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 panel
Brazil.

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel
United States.

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel
United States.

Intellectual Disability NGS Panel Panel

United States.

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 panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

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 panel
United States.

SLC25A15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC25A15 gene.

More info about this panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel
United States.

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

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 panel
Finland.

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel
Finland.

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel
Finland.

Comprehensive Metabolism Panel Panel

Finland.

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 panel
Finland.

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel
Finland.

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel
Finland.

UREA CYCLE DISORDERS: NGS PANEL Panel

Spain.

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 panel
Spain.

Triple H Syndrome , Sequencing SLC25A15 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC25A15 gene.

More info about this panel
Spain.

Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel
Spain.

Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

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 panel
Spain.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SLC25A15 gene.

More info about this panel
Canada.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NCAPD3 LAMA1 AFF4 FUZ AAGAB OGDH AKT3