KCNN4 gene related symptoms and diseases
All the information presented here about the KCNN4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNN4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Macrocytic anemia | Uncommon - Between 30% and 50% cases |
| Anisopoikilocytosis | Uncommon - Between 30% and 50% cases |
| Congenital hemolytic anemia | Uncommon - Between 30% and 50% cases |
| Chronic hemolytic anemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KCNN4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Normocytic anemia
- Stomatocytosis
- Acanthocytosis
- Increased mean corpuscular volume
- Reticulocytosis
- Prolonged neonatal jaundice
- Hepatomegaly
- Cholelithiasis
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNN4 gene
Here you will find a list of rare diseases related to the KCNN4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEHYDRATED HEREDITARY STOMATOCYTOSIS
Alternate names
DEHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as hereditary xerocytosis
Description
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS
SOURCES: ORPHANET
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2
Alternate names
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos, xerocytosis gardos
Description
In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).
Most common symptoms of DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2
- Anemia
- Hepatomegaly
- Splenomegaly
- Jaundice
- Hepatosplenomegaly
More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2
SOURCES: OMIM
Search interest in KCNN4
Potential gene panels for KCNN4 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.
KCNN4 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 KCNN4 gene.
More info about this panel United States.
Hereditary Xerocytosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Xerocytosis Sequencing Panel with CNV Detection that also includes the following genes: PIEZO1 KCNN4
More info about this panel United States.
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.
KCNN4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNN4 gene.
More info about this panel United States.
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