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.

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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


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

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

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

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

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

KCNN4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNN4 gene.

More info about this panel


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