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.
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
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
Search interest in SLC25A38
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 United States.
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 United States.
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 Argentina.
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.
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 Germany.
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 Germany.
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 Germany.
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 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.
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 Estonia.
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 Spain.
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.
SLC25A38 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC25A38 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Spain.
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