MCID: OVR093
MIFTS: 34

Overhydrated Hereditary Stomatocytosis

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Overhydrated Hereditary Stomatocytosis

MalaCards integrated aliases for Overhydrated Hereditary Stomatocytosis:

Name: Overhydrated Hereditary Stomatocytosis 57 59 75 37 55
Ohst 57 75
Ohs 57 75
Hereditary, Overhydrated, Cation-Leak Stomatocytosis 75
Potassium-Sodium Disorder of Erythrocyte 57
Potassium Sodium Disorder of Erythrocyte 75
Overhydrated Cation Leak Stomatocytosis 75
Stomatocytosis, Overhydrated Hereditary 40
Stomatocytosis I 73

Characteristics:

Orphanet epidemiological data:

59
overhydrated hereditary stomatocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients experience respiratory infections in association with episodes of jaundice in childhood


HPO:

32
overhydrated hereditary stomatocytosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 185000
Orphanet 59 ORPHA3203
ICD10 via Orphanet 34 D58.8
MedGen 42 C1861455
MeSH 44 D000745
KEGG 37 H01979
UMLS 73 C1861455

Summaries for Overhydrated Hereditary Stomatocytosis

OMIM : 57 Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. (185000)

MalaCards based summary : Overhydrated Hereditary Stomatocytosis, also known as ohst, is related to stomatocytosis i and occipital horn syndrome, and has symptoms including icterus An important gene associated with Overhydrated Hereditary Stomatocytosis is RHAG (Rh Associated Glycoprotein), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Related phenotypes are jaundice and splenomegaly

UniProtKB/Swiss-Prot : 75 Overhydrated hereditary stomatocytosis: An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload.

Related Diseases for Overhydrated Hereditary Stomatocytosis

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 stomatocytosis i 31.7 RHAG STOM
2 occipital horn syndrome 11.8
3 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3
4 obesity-hypoventilation syndrome 11.1
5 hermansky-pudlak syndrome 1 10.9
6 vitamin d hydroxylation-deficient rickets, type 1a 10.9
7 hypophosphatemic rickets, x-linked dominant 10.9
8 back pain 10.9
9 cardiogenic shock 10.9
10 breast cancer 10.1
11 hyperparathyroidism 10.0
12 prostatitis 10.0
13 bone disease 9.9
14 renal osteodystrophy 9.9
15 prostate cancer 9.9
16 secondary hyperparathyroidism of renal origin 9.9
17 osteoporosis 9.8
18 rickets 9.8
19 osteitis fibrosa 9.8
20 rheumatoid arthritis 9.8
21 insulin-like growth factor i 9.8
22 arthritis 9.8
23 leukemia 9.8
24 sarcoma 9.8
25 squamous cell carcinoma 9.8
26 endometrial adenocarcinoma 9.8
27 adenocarcinoma 9.8
28 thyroiditis 9.8
29 psoriasis 9.8
30 colorectal cancer 9.7
31 diabetes mellitus, noninsulin-dependent 9.7
32 multiple sclerosis 9.7
33 systemic lupus erythematosus 9.7
34 ovarian cancer 9.7
35 lung cancer 9.7
36 aging 9.7
37 asthma 9.7
38 leukemia, acute myeloid 9.7
39 gastric cancer 9.7
40 chronic kidney failure 9.7
41 diabetes mellitus 9.7
42 hypoparathyroidism 9.7
43 primary hyperparathyroidism 9.7
44 nephrocalcinosis 9.7
45 urethritis 9.7
46 urethral stricture 9.7
47 uremia 9.7
48 kidney disease 9.7
49 neuronitis 9.7
50 peritonitis 9.7

Graphical network of the top 20 diseases related to Overhydrated Hereditary Stomatocytosis:



Diseases related to Overhydrated Hereditary Stomatocytosis

Symptoms & Phenotypes for Overhydrated Hereditary Stomatocytosis

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
hemolytic anemia
reticulocytosis
stomatocytosis
increased osmotic fragility
elevated reticulocyte count
more
Laboratory Abnormalities:
hyperbilirubinemia

Abdomen Liver:
hepatomegaly
jaundice

Skin Nails Hair Skin:
jaundice


Clinical features from OMIM:

185000

Human phenotypes related to Overhydrated Hereditary Stomatocytosis:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 splenomegaly 32 HP:0001744
3 hemolytic anemia 32 HP:0001878
4 reticulocytosis 32 HP:0001923
5 hepatomegaly 32 HP:0002240
6 hyperbilirubinemia 32 HP:0002904
7 increased intracellular sodium 32 HP:0003575
8 stomatocytosis 32 HP:0004446
9 increased red cell osmotic fragility 32 HP:0005502

UMLS symptoms related to Overhydrated Hereditary Stomatocytosis:


icterus

GenomeRNAi Phenotypes related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.56 ANXA5 STOM
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.56 ANXA5 STOM
3 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.16 ANXA5 STOM
4 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 8.62 ANXA5 STOM

Drugs & Therapeutics for Overhydrated Hereditary Stomatocytosis

Search Clinical Trials , NIH Clinical Center for Overhydrated Hereditary Stomatocytosis

Genetic Tests for Overhydrated Hereditary Stomatocytosis

Anatomical Context for Overhydrated Hereditary Stomatocytosis

Publications for Overhydrated Hereditary Stomatocytosis

Articles related to Overhydrated Hereditary Stomatocytosis:

# 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 &amp;quot;stomatin&amp;quot; gene and protein in overhydrated hereditary stomatocytosis. ( 12750157 )
2003

Variations for Overhydrated Hereditary Stomatocytosis

UniProtKB/Swiss-Prot genetic disease variations for Overhydrated Hereditary Stomatocytosis:

75
# Symbol AA change Variation ID SNP ID
1 RHAG p.Ile61Arg VAR_076283 rs863225469
2 RHAG p.Phe65Ser VAR_076284 rs863225468

ClinVar genetic disease variations for Overhydrated Hereditary Stomatocytosis:

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 Overhydrated Hereditary Stomatocytosis

Search GEO for disease gene expression data for Overhydrated Hereditary Stomatocytosis.

Pathways for Overhydrated Hereditary Stomatocytosis

GO Terms for Overhydrated Hereditary Stomatocytosis

Cellular components related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.62 SRI STOM

Sources for Overhydrated Hereditary Stomatocytosis

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
50 NCIt
51 NDF-RT
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
Content
Loading form....