Aliases & Classifications for Stomatocytosis I

MalaCards integrated aliases for Stomatocytosis I:

Name: Stomatocytosis I 53 29 13 6 73
Potassium Sodium Disorder of Erythrocyte 53
Overhydrated Hereditary Stomatocytosis 53

Classifications:



External Ids:

UMLS 73 C1861455

Summaries for Stomatocytosis I

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3203Disease definitionOverhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.EpidemiologyOHSt is very rare with only seven cases described in the literature so far.Clinical descriptionOnset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload.EtiologyIn the majority of cases, OHSt is caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.Diagnostic methodsDiagnosis is based on a massive right shift of the osmotic gradient ektacytometry curve indicating overhydrated red cells and decreased osmotic resistance, together with a substantial increase in the monovalent cation leak compared to controls, and a sharp decrease of the leak as a function of decreasing temperature. Blood smears show an elevated percentage of well formed stomatocytes. There is macrocytosis, a low mean cell hemoglobin concentration (MCHC) and a high reticulocyte count. Electrophoresis reveals that the membrane protein stomatin is absent or present at only low levels.Differential diagnosisThe differential diagnosis should include the most common form of hereditary stomatocytosis, dehydrated hereditary stomatocytosis, as well as hereditary cryohydrocytosis with reduced stomatin (see these terms).Genetic counselingOHSt is transmitted as an autosomal dominanttrait but de novo mutations are quite common.Management and treatmentTreatment involves blood transfusions, when necessary, together with management of biliary lithiasis and iron overload. Splenectomy is contraindicated in OHSt patients as it may induce venous thromboembolic complications.PrognosisWith correct management of the complications, the prognosis is good.Visit the Orphanet disease page for more resources.

MalaCards based summary : Stomatocytosis I, also known as potassium sodium disorder of erythrocyte, is related to overhydrated hereditary stomatocytosis and hemolytic anemia, and has symptoms including icterus An important gene associated with Stomatocytosis I is RHAG (Rh Associated Glycoprotein), and among its related pathways/superpathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

Related Diseases for Stomatocytosis I

Diseases in the Stomatocytosis I family:

Stomatocytosis Ii

Diseases related to Stomatocytosis I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 overhydrated hereditary stomatocytosis 30.4 RHAG STOM
2 hemolytic anemia 9.0 RHAG STOM

Symptoms & Phenotypes for Stomatocytosis I

UMLS symptoms related to Stomatocytosis I:


icterus

Drugs & Therapeutics for Stomatocytosis I

Search Clinical Trials , NIH Clinical Center for Stomatocytosis I

Genetic Tests for Stomatocytosis I

Genetic tests related to Stomatocytosis I:

# Genetic test Affiliating Genes
1 Stomatocytosis I 29 RHAG STOM

Anatomical Context for Stomatocytosis I

Publications for Stomatocytosis I

Articles related to Stomatocytosis I:

# Title Authors Year
1
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis. ( 21859730 )
2011
2
Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis. ( 17961506 )
2008
3
Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes. ( 16197460 )
2005
4
The "stomatin" gene and protein in overhydrated hereditary stomatocytosis. ( 12750157 )
2003

Variations for Stomatocytosis I

ClinVar genetic disease variations for Stomatocytosis I:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RHAG NM_000324.2(RHAG): c.194T> C (p.Phe65Ser) single nucleotide variant Pathogenic rs863225468 GRCh38 Chromosome 6, 49619326: 49619326
2 RHAG NM_000324.2(RHAG): c.194T> C (p.Phe65Ser) single nucleotide variant Pathogenic rs863225468 GRCh37 Chromosome 6, 49587039: 49587039
3 RHAG NM_000324.2(RHAG): c.182T> G (p.Ile61Arg) single nucleotide variant Pathogenic rs863225469 GRCh38 Chromosome 6, 49619338: 49619338
4 RHAG NM_000324.2(RHAG): c.182T> G (p.Ile61Arg) single nucleotide variant Pathogenic rs863225469 GRCh37 Chromosome 6, 49587051: 49587051
5 RHAG NM_000324.2(RHAG): c.1007T> C (p.Leu336Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 49611084: 49611084
6 RHAG NM_000324.2(RHAG): c.1007T> C (p.Leu336Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 49578797: 49578797
7 RHAG NM_000324.2(RHAG): c.447T> G (p.Ile149Met) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 49585826: 49585826
8 RHAG NM_000324.2(RHAG): c.447T> G (p.Ile149Met) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 49618113: 49618113

Expression for Stomatocytosis I

Search GEO for disease gene expression data for Stomatocytosis I.

GO Terms for Stomatocytosis I

Cellular components related to Stomatocytosis I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 RHAG STOM

Sources for Stomatocytosis I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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