SLC25A19 gene related symptoms and diseases

All the information presented here about the SLC25A19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC25A19 gene

Symptoms // Phenotype % Cases
Encephalopathy Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Enlarged cisterna magna Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC25A19 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Decreased skull ossification
  • Dilation of lateral ventricles
  • Cleft soft palate
  • Organic aciduria
  • Severe lactic acidosis
  • Congenital microcephaly
  • Spinal dysraphism
  • Temperature instability

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC25A19 gene

Here you will find a list of rare diseases related to the SLC25A19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMISH LETHAL MICROCEPHALY


Alternate names

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type), amish lethal microcephaly, thmd3

Description

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

Most common symptoms of AMISH LETHAL MICROCEPHALY

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


More info about AMISH LETHAL MICROCEPHALY

SOURCES: MESH OMIM ORPHANET

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS


Alternate names

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy, bilateral striatal degeneration and progressive polyneuropathy

Description

Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

Most common symptoms of PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

SOURCES: OMIM ORPHANET


Potential gene panels for SLC25A19 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

SLC25A19 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A19 gene.

More info about this panel

SLC25A19 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A19 gene.

More info about this panel

SLC25A19 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A19 gene.

More info about this panel

SLC25A19 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC25A19 gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1

More info about this panel

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

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

Microcephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT

More info about this panel

SLC25A19 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the SLC25A19 gene.

More info about this panel

Autosomal Recessive Primary Microcephaly Tier 2 panel Panel

United States.

By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

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

Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type(sequence analysis of SLC25A19 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC25A19 gene.

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

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

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

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

Microcephaly Amish type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC25A19 gene.

More info about this panel

Microcephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2

More info about this panel

Microcephaly Amish type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC25A19 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC25A19 gene.

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

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

Single gene testing SLC25A19 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC25A19 gene.

More info about this panel

Microcephaly Panel

Estonia.

By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel Panel

United States.

By Invitae Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel that also includes the following genes: SLC25A19 DLD OGDH

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

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

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

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

SLC25A19 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC25A19 gene.

More info about this panel

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


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