MCID: STM009
MIFTS: 14

Stomatocytosis I

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Stomatocytosis I

MalaCards integrated aliases for Stomatocytosis I:

Name: Stomatocytosis I 54 30 13 6 74
Potassium Sodium Disorder of Erythrocyte 54
Overhydrated Hereditary Stomatocytosis 54

Classifications:



External Ids:

UMLS 74 C1861455

Summaries for Stomatocytosis I

NIH Rare Diseases : 54 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 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema and overhydrated hereditary stomatocytosis, and has symptoms including icterus An important gene associated with Stomatocytosis I is RHAG (Rh Associated Glycoprotein).

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 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.5
2 overhydrated hereditary stomatocytosis 11.2

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 30 RHAG

Anatomical Context for Stomatocytosis I

Publications for Stomatocytosis I

Articles related to Stomatocytosis I:

(show all 14)
# Title Authors Year
1
Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout. ( 23406318 )
2013
2
Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells. ( 22012326 )
2012
3
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis. ( 21859730 )
2011
4
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. ( 21849667 )
2011
5
The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. ( 18931342 )
2009
6
Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis. ( 17961506 )
2008
7
Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes. ( 16197460 )
2005
8
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction. ( 15180870 )
2004
9
The "stomatin" gene and protein in overhydrated hereditary stomatocytosis. ( 12750157 )
2003
10
Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency. ( 2765409 )
1989
11
Reduction of membrane band 7 and activation of volume stimulated (K+, Cl-)-cotransport in a case of congenital stomatocytosis. ( 2917122 )
1989
12
Hereditary stomatocytosis: membrane and metabolism studies. ( 1174702 )
1975
13
Stomatocytosis. ( 6018468 )
1967
14
Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia. ( 13762977 )
1961

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 rs1554172605 GRCh38 Chromosome 6, 49611084: 49611084
6 RHAG NM_000324.2(RHAG): c.1007T> C (p.Leu336Ser) single nucleotide variant Uncertain significance rs1554172605 GRCh37 Chromosome 6, 49578797: 49578797
7 RHAG NM_000324.2(RHAG): c.447T> G (p.Ile149Met) single nucleotide variant Pathogenic rs1554174425 GRCh37 Chromosome 6, 49585826: 49585826
8 RHAG NM_000324.2(RHAG): c.447T> G (p.Ile149Met) single nucleotide variant Pathogenic rs1554174425 GRCh38 Chromosome 6, 49618113: 49618113

Expression for Stomatocytosis I

Search GEO for disease gene expression data for Stomatocytosis I.

Pathways for Stomatocytosis I

GO Terms for Stomatocytosis I

Sources for Stomatocytosis I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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