Overhydrated Hereditary Stomatocytosis
Description
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
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.
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
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Coordinator of research networkLE KREMLIN-BICÊTRE — Pr Jean DELAUNAY
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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
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Institution/s:
Overhydrated Hereditary Stomatocytosis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).
RHAG, SPTA1, SPTB, EPB41, EPB42, ANK1
Specificity
17 %
Genes
50 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DESMOID DISEASE, HEREDITARY EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 LENNOX-GASTAUT SYNDROME GRAHAM LITTLE-PICCARDI-LASSUEUR SYNDROME