1. Mendelian
  2. Rare Diseases
  3. OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST

Overhydrated Hereditary Stomatocytosis

Table of contents:

Description

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

Genes related to Overhydrated Hereditary Stomatocytosis

  • RHAG
  • STOM

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Overhydrated Hereditary Stomatocytosis

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema
  • Diarrhea
  • Splenomegaly
  • Abdominal pain
  • Jaundice

And another 26 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Overhydrated Hereditary Stomatocytosis Is also known as ohs, potassium-sodium disorder of erythrocyte.

Researches and researchers

Doctors, researchs, and experts related to Overhydrated Hereditary Stomatocytosis extracted from public data.

Overhydrated Hereditary Stomatocytosis Experts map



Current Researchs and researchers

  • LE KREMLIN-BICÊTRE — Pr Jean DELAUNAY

    Coordinator of research network

    • Institution/s:
      — CHU Paris-Sud - Hôpital de Bicêtre
      — INSERM U 779, CHU Paris-Sud - Hôpital de Bicêtre
    • Research area/topic::

      Réseau sur les maladies génétiques rares de l'érythropoïèse et de la membrane érythrocytaire


Overhydrated Hereditary Stomatocytosis 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
50 %
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
50 %
RHAG Sequencing.

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

RHAG
Specificity
100 %
Genes
50 %
RHAG Deletion/duplication analysis.

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

RHAG
Specificity
100 %
Genes
50 %
Hemolytic Anemia Deletion/Duplication Panel.

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, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.

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, ABCG5, ABCG8, PIEZO1, EPB41, EPB42, GYPC, ANK1
Specificity
9 %
Genes
50 %
Erythrocyte membrane disorder panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

RHAG, SPTA1, SPTB, EPB41, EPB42, ANK1
Specificity
17 %
Genes
50 %
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
50 %

You can get up to 6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DESMOID DISEASE, HEREDITARY MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 LENNOX-GASTAUT SYNDROME GABRIELE-DE VRIES SYNDROME; GADEVS