Dehydrated Hereditary Stomatocytosis 2; Dhs2

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Dehydrated Hereditary Stomatocytosis 2; Dhs2

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly
  • Pallor
  • Hemolytic anemia
  • Dehydration
  • Hyperbilirubinemia
  • Cholelithiasis

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Dehydrated Hereditary Stomatocytosis 2; Dhs2 Is also known as desiccytosis gardos, xerocytosis gardos.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dehydrated Hereditary Stomatocytosis 2; Dhs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SLC2A1, SPTA1, SPTB, XK, ATP11C, ABCG5, ABCG8, COL4A1, PIEZO1, EPB41, EPB42, GYPC, ANK1, KCNN4
Specificity
7 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
KCNN4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KCNN4
Specificity
100 %
Genes
100 %
Hereditary Xerocytosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PIEZO1, KCNN4
Specificity
50 %
Genes
100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS (Spain).

RHAG, BPGM, SLC2A1, SPTA1, SPTB, TPI1, UGT1A1, XK, ABCG5, ABCG8, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
KCNN4.

By Fulgent Genetics Fulgent Genetics (United States).

KCNN4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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