ALAS2 gene related symptoms and diseases
All the information presented here about the ALAS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALAS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Common - Between 50% and 80% cases |
| Elevated hepatic transaminase | Common - Between 50% and 80% cases |
| Hypolipidemia | Uncommon - Between 30% and 50% cases |
| Abnormality of iron homeostasis | Uncommon - Between 30% and 50% cases |
| Sideroblastic anemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ALAS2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypocholesterolemia
- Hypochromic microcytic anemia
- Anemia of inadequate production
- Megaloblastic anemia
- Macrocytic anemia
- Microcytic anemia
- Glucose intolerance
- Myelodysplasia
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALAS2 gene
Here you will find a list of rare diseases related to the ALAS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED ERYTHROPOIETIC PROTOPORPHYRIA
Alternate names
X-LINKED ERYTHROPOIETIC PROTOPORPHYRIA Is also known as xlp, xlpp, x-linked dominant erythropoietic protoporphyria, x-linked dominant protoporphyria, xldpp
More info about X-LINKED ERYTHROPOIETIC PROTOPORPHYRIA
SOURCES: ORPHANET
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP
Alternate names
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP Is also known as protoporphyria, erythropoietic, x-linked dominant, xldpp, erythrohepatic protoporphyria, x-linked
Description
X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013).For a discussion of genetic heterogeneity of erythropoietic protoporphyria, see EPP1 (OMIM ).
Most common symptoms of PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP
- Anemia
- Elevated hepatic transaminase
- Abnormality of the liver
- Cutaneous photosensitivity
- Cholelithiasis
More info about PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP
SOURCES: OMIM
X-LINKED SIDEROBLASTIC ANEMIA
Alternate names
X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic, xlsa, anemia, hypochromic, anemia, sideroblastic, x-linked, anh1, hereditary iron-loading anemia
Description
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
Most common symptoms of X-LINKED SIDEROBLASTIC ANEMIA
- Ataxia
- Muscle weakness
- Anemia
- Hepatomegaly
- Fatigue
More info about X-LINKED SIDEROBLASTIC ANEMIA
Search interest in ALAS2
Potential gene panels for ALAS2 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.
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23
More info about this panel United States.
ALAS2 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 ALAS2 gene.
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
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.
X-linked sideroblastic anemia (sequence analysis of ALAS2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALAS2 gene.
More info about this panel Portugal.
Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HMBS PPOX
More info about this panel United States.
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAS2 PPOX
More info about this panel United States.
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALAS2 gene.
More info about this panel United States.
ALAS2 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the ALAS2 gene.
More info about this panel Slovakia.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
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.
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 Germany.
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 Germany.
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 Germany.
Protoporphyria, erythropoietic, X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALAS2 gene.
More info about this panel Germany.
Anemia, sideroblastic, X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALAS2 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.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Porphyria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Estonia.
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.
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria that also includes the following genes: UROS CLPX FECH ALAS2
More info about this panel Spain.
Anemia, sideroblastic, X-linked: ALAS2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALAS2 gene.
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.
ALAS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALAS2 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Porphyria Panel Panel
Finland.
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Finland.
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.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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.
Congenital sideroblastic anemia Panel
Spain.
By Bioarray
This panel specifically test the ALAS2 gene.
More info about this panel Spain.
ERYTHROPOIETIC PROTOPORPHYRIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ERYTHROPOIETIC PROTOPORPHYRIA that also includes the following genes: FECH ALAS2
More info about this panel Spain.
SIDEROBLASTIC ANEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALAS2 gene.
More info about this panel Spain.
X-Linked Sideroblastic Anemia , Sequencing ALAS2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALAS2 gene.
More info about this panel Spain.
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.
Protoporphyria: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALAS2 gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAC KCNV2 DLX5 LPL ACKR1 EPB41 KCNAB2