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.
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
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
Search interest in GYPC
Potential gene panels for GYPC gene
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel
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 panelHemolytic Anemia Panel by next-generation sequencing (NGS) Panel
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 panelHemolytic Anemia Deletion/Duplication Panel Panel
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 panelRed Blood Cell Membrane Disorders Deletion/Duplication Panel Panel
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 panelGYPC Deletion/duplication analysis Panel
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 panelGYPC Sequencing Panel
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 panelHereditary elliptocytosis (sequence analysis of GYPC gene) Panel
By CGC Genetics
This panel specifically test the GYPC gene.
More info about this panelNGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
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 panelHereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
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 panelGYPC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GYPC gene.
More info about this panelHereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ACTA2 PHF21A SMIM1 LMNA PRKG1 ATXN7 TNXB