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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

ALAS2 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the ALAS2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ALAS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALAS2 gene.

More info about this panel

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

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

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

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

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

Congenital sideroblastic anemia Panel

Spain.

By Bioarray

This panel specifically test the ALAS2 gene.

More info about this panel

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

SIDEROBLASTIC ANEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALAS2 gene.

More info about this panel

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

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

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


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