SLC25A38 gene related symptoms and diseases

All the information presented here about the SLC25A38 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC25A38 gene

Symptoms // Phenotype % Cases
Pain Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
Crackles Uncommon - Between 30% and 50% cases
Hypochromic anemia Uncommon - Between 30% and 50% cases
Abnormal glucose tolerance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC25A38 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Sideroblastic anemia
  • Decreased mean corpuscular volume
  • Increased serum ferritin
  • Microcytic anemia
  • Palpitations
  • Tachycardia
  • Anemia
  • Pallor

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC25A38 gene

Here you will find a list of rare diseases related to the SLC25A38. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA


Alternate names

ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA Is also known as rars, primary acquired sideroblastic anemia, refractory anemia with ringed sideroblasts, aisa

Description

Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.

Most common symptoms of ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA

  • Pain
  • Anemia
  • Fatigue
  • Respiratory distress
  • Congestive heart failure


More info about ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA


Alternate names

AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA Is also known as arsa, congenital sideroblastic anemia

Description

Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


More info about AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA

SOURCES: ORPHANET


Potential gene panels for SLC25A38 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

SLC25A38 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SLC25A38 gene.

More info about this panel

Hyperferritinemia Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2

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

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 Anemia Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Anemia that also includes the following genes: SLC19A2 PUS1 YARS2 SLC25A38

More info about this panel

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC25A38 gene.

More info about this panel

Congenital sideroblastic anemia panel Panel

Germany.

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

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

Hereditary Sideroblastic Anemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Sideroblastic Anemia that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7 HSPA9

More info about this panel

NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38

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

SLC25A38 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC25A38 gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: PUS1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7

More info about this panel


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