SLC19A2 gene related symptoms and diseases

All the information presented here about the SLC19A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC.

Top 5 symptoms associated to SLC19A2 gene



Symptoms // Phenotype % Cases
Thiamine-responsive megaloblastic anemia 100%
Ventricular septal defect 100%
Arrhythmia 100%
Gastroesophageal reflux 100%
Congestive heart failure 100%

Other less frequent symptoms

Patients with SLC19A2 gene alterations may also develop some of the following symptoms and phenotypes:

100% Diarrhea 100% Thrombocytopenia 100% Atrial septal defect 100% Optic atrophy 100% Diabetes mellitus 100% Ataxia 100% Sensorineural hearing impairment 100% Cryptorchidism

And 24 more phenotypes.
View the complete list

Rare diseases associated to SLC19A2 gene

Here you can will find a list of rare diseases related to the SLC19A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Alternate names

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);thmd1, megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive anemia syndrome, thiamine-responsive myelodysplasia;

Description

Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009). Genetic Heterogeneity of Disorders Due to Thiamine Metabolism DysfunctionSee also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2 ), caused by mutation in the SLC19A3 gene (OMIM ) on chromosome 2q36; Amish lethal microcephaly (THMD3 ) and bilateral striatal necrosis and progressive polyneuropathy (THMD4 ), both caused by mutation in the SLC25A19 gene (OMIM ) on chromosome 17q25; and THMD5 (OMIM ), caused by mutation in the TPK1 gene (OMIM ) on chromosome 7q35.

Most common symptoms of THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

  • Thiamine-responsive megaloblastic anemia
  • Paroxysmal atrial tachycardia
  • Sideroblastic anemia
  • Megaloblastic anemia
  • Cardiac arrest


More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

SOURCES: ORPHANET OMIM

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Alternate names

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);thmd1, megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive anemia syndrome, thiamine-responsive myelodysplasia;

Description

Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009). Genetic Heterogeneity of Disorders Due to Thiamine Metabolism DysfunctionSee also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2 ), caused by mutation in the SLC19A3 gene (OMIM ) on chromosome 2q36; Amish lethal microcephaly (THMD3 ) and bilateral striatal necrosis and progressive polyneuropathy (THMD4 ), both caused by mutation in the SLC25A19 gene (OMIM ) on chromosome 17q25; and THMD5 (OMIM ), caused by mutation in the TPK1 gene (OMIM ) on chromosome 7q35.

Most common symptoms of THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

  • Thiamine-responsive megaloblastic anemia
  • Paroxysmal atrial tachycardia
  • Sideroblastic anemia
  • Megaloblastic anemia
  • Cardiac arrest


More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

SOURCES: ORPHANET OMIM

Potential gene panels for SLC19A2 gene

Thiamine-Responsive Megaloblastic Anemia Syndrome Panel

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

This panel specifically test the SLC19A2 gene.

More info about this panel

Hearing Loss Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Hearing Loss Panel that also includes the following genes: TCOF1 SERPINB6 SEMA3E SALL1 RPS6KA3 PITX2 MYO7A MYH9 HGF DTD1 And 112 more,

More info about this panel

SLC19A2 sequencing Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the SLC19A2 gene.

More info about this panel

SLC19A2 deletion/duplication analysis Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the SLC19A2 gene.

More info about this panel

Ataxia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Ataxia Exome Panel that also includes the following genes: AAAS AHI1 NT5C2 PTS AP4M1 AP4B1 AP4E1 AP4S1 ARL6IP1 NAXE And 470 more,

More info about this panel

SLC19A2. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the SLC19A2 gene.

More info about this panel

Thiamine-responsive megaloblastic anemia syndrome (sequence analysis of SLC19A2 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the SLC19A2 gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

By CGC Genetics in Portugal. Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: ALMS1 COL11A2 COL11A1 COL2A1 COL4A4 COL9A2 EDN3 ABHD12 USH1C TCOF1 And 52 more,

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

By CGC Genetics in Portugal. Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: COL9A2 EDNRB OTOGL EDN3 OTOG EYA1 ESPN FOXI1 WHRN KCNQ4 And 117 more,

More info about this panel

Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel

By CGC Genetics in Portugal. Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: GCK HNF1B GLIS3 PTF1A RFX6 IER3IP1 GATA6 PAX6 INS ABCC8 And 3 more,

More info about this panel

Thiamine-Responsive Megaloblastic Anemia Syndrome Panel

By Exeter Molecular Genetics Laboratory in United Kingdom.

This panel specifically test the SLC19A2 gene.

More info about this panel

Thiamine Responsive Megaloblastic Anemia via the SLC19A2 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the SLC19A2 gene.

More info about this panel

Thiamine-Responsive Megaloblastic Anemia Syndrome Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany.

This panel specifically test the SLC19A2 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Neurogenetic Disorders - panels that also includes the following genes: AAAS NT5C2 ACAD9 AP4M1 AP4B1 AP4E1 AP4S1 ACY1 ACOX1 AMPD2 And 587 more,

More info about this panel

Epilepsy and Mitochondrial Encephalopathy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: MECP2 NDUFV2 GFM1 PUS1 MTPAP EIF2AK3 PDHX PDSS2 SCO2 NDUFS7 And 176 more,

More info about this panel

Mitochondrial Diseases Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mitochondrial Diseases that also includes the following genes: SUCLG1 NDUFS1 NDUFB9 NDUFS6 TAZ SLC25A3 SLC25A20 MGME1 MFN2 MRPS22 And 158 more,

More info about this panel

Mitochondrial Anemia Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mitochondrial Anemia that also includes the following genes: PUS1 SLC19A2 YARS2 SLC25A38

More info about this panel

Mitochondrial Encephalopathy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mitochondrial Encephalopathy that also includes the following genes: SUCLG1 NDUFS1 NDUFB9 NDUFS6 TAZ SLC25A3 SLC25A20 MRPS22 SDHC NDUFA1 And 121 more,

More info about this panel

Epilepsy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Epilepsy that also includes the following genes: DEPDC5 ATP1A2 GMPPB CHD8 SPG7 SDHB GFER RRM2B PUS1 PDHX And 202 more,

More info about this panel

Congenital sideroblastic anemia panel Panel

By Centogene AG - the Rare Disease Company in Germany. Congenital sideroblastic anemia panel that also includes the following genes: PUS1 SLC25A38 GLRX5 TRNT1 YARS2 ABCB7 ALAS2 SLC19A2

More info about this panel

Syndromic Hearing Loss Panel Panel

By CeGaT GmbH in Germany. Syndromic Hearing Loss Panel that also includes the following genes: MYO7A ATP6V1B1 ANKH ABHD12 CACNA1D COL4A4 EDNRB CHD7 CDKN1C KCNQ1 And 52 more,

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

By CeGaT GmbH in Germany. Nuclear encoded Mitochondriopathies Panel that also includes the following genes: YWHAE PNPT1 POLG PNKD PNPLA2 PET100 PINK1 PDSS1 PDSS2 COX4I2 And 273 more,

More info about this panel

NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel

By BLOODGENETICS BLOODGENETICS in Spain. NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: STEAP3 PUS1 SLC25A38 ALAS2 YARS2 LARS2 HSPA9 GLRX5 TRNT1 SF3B1 And 2 more,

More info about this panel

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome that also includes the following genes: MUTYH DHTKD1 ABCB6 DISC1 AIFM1 PNPT1 CLN5 AKT2 COMT SURF1 And 410 more,

More info about this panel

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders that also includes the following genes: HSD17B10 HMGCS2 OXCT1 MTR PTS ACAD9 ALG1 MGAT2 ACOX1 APTX And 238 more,

More info about this panel

Abnormal Glucose/MODY Spotlight Panel Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. Abnormal Glucose/MODY Spotlight Panel that also includes the following genes: AVP APPL1 AQP2 HTR1A DYRK1B GCK HNF1A HNF4A NEUROD1 PLAGL1 And 21 more,

More info about this panel

Thiamine-responsive megaloblastic anemia syndrome: SLC19A2 gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

This panel specifically test the SLC19A2 gene.

More info about this panel

Diabetes mellitus, neonatal permanent Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Diabetes mellitus, neonatal permanent that also includes the following genes: GCK GATA6 PAX6 NEUROD1 EIF2AK3 FOXP3 GLIS3 PTF1A RFX6 ABCC8 And 7 more,

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: MECP2 WISP3 LAMB3 HADHA DPYD CLN5 BCKDHA ABCC8 SGCG POMGNT1 And 137 more,

More info about this panel

Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: CACNA2D1 KCNE2 RYR1 NDUFAF5 HIGD2A ECI1 FTH1 ATP10D PPARGC1A CYP11B1 And 494 more,

More info about this panel

SLC19A2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the SLC19A2 gene.

More info about this panel

Anemia Panel Panel

By Blueprint Genetics in Finland. Anemia Panel that also includes the following genes: ADAMTS13 MTR ANK1 ATRX ATM BRCA2 BRIP1 GATA1 FANCB G6PD And 58 more,

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

By Blueprint Genetics in Finland. Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: ABHD12 ALMS1 ADCY1 ANKH BDP1 BTD HSD17B4 ATP6V1B1 CIB2 BCS1L And 148 more,

More info about this panel

Syndromic Hearing Loss Panel Panel

By Blueprint Genetics in Finland. Syndromic Hearing Loss Panel that also includes the following genes: ABHD12 ALMS1 ANKH BTD ATP6V1B1 CIB2 BCS1L CACNA1D CHD7 CLRN1 And 60 more,

More info about this panel

Comprehensive Hematology Panel Panel

By Blueprint Genetics in Finland. Comprehensive Hematology Panel that also includes the following genes: ABCA3 ADAMTS13 MTR AK2 ANK1 ANKRD26 ATRX ATM BRCA2 BLOC1S3 And 165 more,

More info about this panel

Thiamine-responsive megaloblastic anemia syndrome Panel

By Bioarray in Spain.

This panel specifically test the SLC19A2 gene.

More info about this panel

MEGALOBLASTIC ANEMIA: NGS PANEL Panel

By Laboratorio de Genetica Clinica SL in Spain. MEGALOBLASTIC ANEMIA: NGS PANEL that also includes the following genes: AMN GIF SLC19A2 CUBN DHFR

More info about this panel

Thiamine-Responsive Megaloblastic Anemia Syndrome , Sequencing SLC19A2 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the SLC19A2 gene.

More info about this panel

Other genes that you may find interesting

CHIC2