GYPC gene related symptoms and diseases

All the information presented here about the GYPC 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 GYPC gene

Symptoms // Phenotype % Cases
Anemia Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Elliptocytosis Common - Between 50% and 80% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
Morphological abnormality of the central nervous system Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Elevated C-reactive protein level
  • Gait imbalance
  • Reduced consciousness/confusion
  • Acute kidney injury
  • Abnormality of blood and blood-forming tissues
  • Hyperbilirubinemia
  • Myalgia
  • Retinopathy

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

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Rare diseases associated to GYPC gene

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


HEREDITARY ELLIPTOCYTOSIS


Alternate names

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Description

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Most common symptoms of HEREDITARY ELLIPTOCYTOSIS

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


More info about HEREDITARY ELLIPTOCYTOSIS

SOURCES: ORPHANET

MALARIA


Description

Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.

Most common symptoms of MALARIA

  • Cognitive impairment
  • Anemia
  • Fever
  • Respiratory distress
  • Headache


More info about MALARIA

SOURCES: OMIM ORPHANET

BLOOD GROUP, GERBICH SYSTEM; GE


Alternate names

BLOOD GROUP, GERBICH SYSTEM; GE Is also known as gerbich blood group system

Description

The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see {611162}). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by Walker and Reid, 2010).

Most common symptoms of BLOOD GROUP, GERBICH SYSTEM; GE

  • Elliptocytosis
  • Blood group antigen abnormality


More info about BLOOD GROUP, GERBICH SYSTEM; GE

SOURCES: OMIM


Potential gene panels for GYPC 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

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

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

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

GYPC 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 GYPC gene.

More info about this panel

GYPC 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 GYPC gene.

More info about this panel

Hereditary elliptocytosis (sequence analysis of GYPC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GYPC gene.

More info about this panel

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

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

GYPC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GYPC gene.

More info about this panel

Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes that also includes the following genes: SPTA1 EPB41 GYPC

More info about this panel


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