SLC19A2 phenotypes and related 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: NCBIGENE,OMIM,ORPHANET,HGNC.

Top 5 symptoms associated to SLC19A2 gene



Symptoms // Phenotype % Cases
Thiamine-responsive megaloblastic anemia 100%
Ventricular septal defect 100%
Headache 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% Thrombocytopenia 100% Diarrhea 100% Atrial septal defect 100% Optic atrophy 100% Diabetes mellitus 100% Ataxia 100% Sensorineural hearing impairment 100% Cryptorchidism 100% Nystagmus 100% Short stature 100% Global developmental delay 100% Seizures 100% Arrhythmia 100% Lethargy 100% Paroxysmal atrial tachycardia 100% Retinal degeneration 100% Congenital septal defect 100% Sideroblastic anemia 100% Megaloblastic anemia 100% Cardiac arrest 100% Cone/cone-rod dystrophy 100% Hoarse voice 100% Situs inversus totalis 100% Retinal dystrophy 100% Cardiomyopathy 100% Stroke 100% Pallor 100% Anorexia 100% Aminoaciduria 100% Paresthesia 100% Visual loss 100% Abnormality of the skin 100% Autosomal recessive inheritance

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
  • Congenital septal defect
  • Sideroblastic anemia
  • Megaloblastic anemia


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
  • Congenital septal defect
  • Sideroblastic anemia
  • Megaloblastic anemia


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 and Science University in United States. Hearing Loss Panel that also includes the following genes: TIMM8A TCOF1 SLC17A8 SERPINB6 SEMA3E SALL4 SALL1 PTPRQ PITX2 NLRP3 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.

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SLC19A2 deletion/duplication analysis Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the SLC19A2 gene.

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Ataxia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Ataxia Exome Panel that also includes the following genes: ADSL EPM2A PEX26 CACNB4 FKRP GBA2 PNPLA6 VAMP1 PIEZO2 MPZ And 470 more,

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SLC19A2. Complete sequencing Panel

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

This panel specifically test the SLC19A2 gene.

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

By CGC Genetics in Portugal.

This panel specifically test the SLC19A2 gene.

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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 COL4A3 COL2A1 COL4A4 COL9A1 COL4A6 USH1G TFAP2A TIMM8A And 52 more,

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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: EDNRB OTOGL PAX3 EYA4 FOXI1 WHRN KCNQ4 KCNQ1 CD151 LOXHD1 And 117 more,

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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 IER3IP1 PDX1 INS KCNJ11 PTF1A SLC19A2 RFX6 And 3 more,

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Thiamine-Responsive Megaloblastic Anemia Syndrome Panel

By Exeter Molecular Genetics Laboratory in United Kingdom.

This panel specifically test the SLC19A2 gene.

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Thiamine Responsive Megaloblastic Anemia via the SLC19A2 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the SLC19A2 gene.

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Thiamine-Responsive Megaloblastic Anemia Syndrome Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany.

This panel specifically test the SLC19A2 gene.

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Neurogenetic Disorders - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Neurogenetic Disorders - panels that also includes the following genes: AAAS HIBCH TREX1 ACTG2 MTHFR ABHD5 SPG21 ACAD9 AP4M1 ADAR And 584 more,

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Epilepsy and Mitochondrial Encephalopathy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SLC2A1 NFU1 MTO1 SDHB FARS2 ETFA UQCRC2 SCO1 FBXL4 TRMU And 176 more,

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Mitochondrial Diseases Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mitochondrial Diseases that also includes the following genes: MGME1 NDUFA1 EIF2AK3 SDHA ABHD5 GFM1 GARS PDP1 PNPLA2 BOLA3 And 158 more,

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Mitochondrial Anemia Panel

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

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Mitochondrial Encephalopathy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Mitochondrial Encephalopathy that also includes the following genes: SDHD ETFA SDHAF1 SDHAF2 GFAP FOXRED1 OPA1 PC PDHB AGK And 121 more,

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Epilepsy Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Epilepsy that also includes the following genes: KCNT1 TUBB4A NOL3 NDUFV2 TMEM70 SDHC NDUFAF4 SDHA GFM1 EIF2AK3 And 202 more,

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Congenital sideroblastic anemia panel Panel

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

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Syndromic Hearing Loss Panel Panel

By CeGaT GmbH in Germany. Syndromic Hearing Loss Panel that also includes the following genes: MYO7A ANKH CD151 COL4A4 EDNRB CHD7 COL4A3 KCNQ1 KCNE1 GATA3 And 52 more,

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Nuclear encoded Mitochondriopathies Panel Panel

By CeGaT GmbH in Germany. Nuclear encoded Mitochondriopathies Panel that also includes the following genes: POLG PNPLA2 PINK1 PDSS1 PDSS2 COX4I2 COX20 COX10 COQ6 COQ9 And 273 more,

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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: LARS2 STEAP3 GLRX5 TRNT1 SLC25A38 ALAS2 YARS2 HSPA9 SF3B1 PUS1 And 2 more,

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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: ADSL MTRR INSR OPA1 TPP1 FOXG1 NOS3 CLCN1 ELN PEX12 And 410 more,

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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: ADSL HSD17B10 OXCT1 MTHFR ACAD9 ALG12 ALG6 MGAT2 ACAD8 ALDH7A1 And 238 more,

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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: INS HNF4A KCNJ11 BLK KLF11 INSR NEUROD1 HAMP PDX1 ZFP57 And 21 more,

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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.

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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: KCNJ11 GCK NEUROD1 EIF2AK3 FOXP3 GLIS3 HNF1B INS PDX1 GATA6 And 7 more,

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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 MAN2B1 LAMB3 DBT DHCR7 DPYD BCKDHA ACAT1 SMN1 SGCG And 137 more,

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Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: PHB KCNQ1 SCN1B NDUFAF6 POLG ALDH7A1 FOXG1 SCN1A RAB11FIP5 TFAM And 494 more,

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SLC19A2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the SLC19A2 gene.

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Anemia Panel Panel

By Blueprint Genetics in Finland. Anemia Panel that also includes the following genes: ADAMTS13 ATRX ATM BRCA2 BRIP1 GATA1 HFE HBA1 FANCB GPI And 58 more,

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Comprehensive Hearing Loss and Deafness Panel Panel

By Blueprint Genetics in Finland. Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: ACTG1 ALMS1 ANKH BTD HSD17B4 CIB2 CD151 COCH CHD7 CCDC50 And 146 more,

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Syndromic Hearing Loss Panel Panel

By Blueprint Genetics in Finland. Syndromic Hearing Loss Panel that also includes the following genes: ACTG1 ALMS1 ANKH BTD CIB2 CD151 CHD7 COL4A3 COL9A1 DLX5 And 60 more,

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Comprehensive Hematology Panel Panel

By Blueprint Genetics in Finland. Comprehensive Hematology Panel that also includes the following genes: ABCA3 ADAMTS13 ACTN1 AP3B1 ATRX ATM BRCA2 BLOC1S3 BRIP1 CTSC And 165 more,

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Thiamine-responsive megaloblastic anemia syndrome Panel

By Bioarray in Spain.

This panel specifically test the SLC19A2 gene.

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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

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