RHAG gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RHAG gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Hyperbilirubinemia Very Common - Between 80% and 100% cases
Stomatocytosis Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RHAG gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased red cell osmotic fragility
  • Not very common - Between 30% and 50% cases

  • Increased antibody level in blood
  • Dehydration
  • Hydrops fetalis
  • Brittle hair
  • Abnormality of mitochondrial metabolism
  • Pulmonary fibrosis
  • Spherocytosis

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RHAG gene

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


RH DEFICIENCY SYNDROME

Alternate names

RH DEFICIENCY SYNDROME Is also known as rh-null hemolytic anemia, regulator type, rh-null disease, regulator type, rh-null syndrome

Most common symptoms of RH DEFICIENCY SYNDROME

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia
  • Stomatocytosis


More info about RH DEFICIENCY SYNDROME

SOURCES: ORPHANET OMIM

OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Alternate names

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs, potassium-sodium disorder of erythrocyte

Description

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

Most common symptoms of OVERHYDRATED HEREDITARY STOMATOCYTOSIS

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

SOURCES: OMIM ORPHANET MESH


Potential gene panels for RHAG gene

Red Blood Cell Membrane Disorders 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 Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

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.

RHAG 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 RHAG gene.

More info about this panel
United States.

RHAG Deletion/duplication analysis 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 RHAG gene.

More info about this panel
United States.

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel
United States.

Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42

More info about this panel
United States.

Erythrocyte membrane disorder panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Erythrocyte membrane disorder panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

More info about this panel
Netherlands.

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel
Spain.

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel
United States.

RHAG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RHAG gene.

More info about this panel
United States.

Red Blood Cell Membrane Disorder Panel Panel

Finland.

By Blueprint Genetics Red Blood Cell Membrane Disorder Panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

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.

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.

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