OHST
MCID: OVR093
MIFTS: 39

Overhydrated Hereditary Stomatocytosis (OHST)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Overhydrated Hereditary Stomatocytosis

MalaCards integrated aliases for Overhydrated Hereditary Stomatocytosis:

Name: Overhydrated Hereditary Stomatocytosis 58 60 76 38 56
Ohst 58 76
Ohs 58 76
Hereditary, Overhydrated, Cation-Leak Stomatocytosis 76
Potassium-Sodium Disorder of Erythrocyte 58
Potassium Sodium Disorder of Erythrocyte 76
Overhydrated Cation Leak Stomatocytosis 76
Stomatocytosis, Overhydrated Hereditary 41
Stomatocytosis I 74

Characteristics:

Orphanet epidemiological data:

60
overhydrated hereditary stomatocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
overhydrated hereditary stomatocytosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 185000
KEGG 38 H01979
MeSH 45 D000745
ICD10 via Orphanet 35 D58.8
Orphanet 60 ORPHA3203
MedGen 43 C1861455
UMLS 74 C1861455

Summaries for Overhydrated Hereditary Stomatocytosis

OMIM : 58 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 occipital horn syndrome and stomatocytosis i, 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. Affiliated tissues include bone, prostate and thyroid, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 76 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 290)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 12.2
2 stomatocytosis i 11.8
3 obesity-hypoventilation syndrome 11.6
4 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.5
5 bombay phenotype 11.4
6 hermansky-pudlak syndrome 1 11.1
7 vitamin d hydroxylation-deficient rickets, type 1a 11.1
8 hypophosphatemic rickets, x-linked dominant 11.1
9 cardiogenic shock 11.1
10 horns in sheep 10.4
11 hyperparathyroidism 10.3
12 secondary hyperparathyroidism 10.3
13 blood group, colton system 10.2
14 rickets 10.2
15 nevus comedonicus 10.2
16 hypertrophic olivary degeneration 10.2
17 bone disease 10.2
18 breast cancer 10.2
19 cystic fibrosis 10.2
20 renal osteodystrophy 10.2
21 uremia 10.2
22 streptococcal group a invasive disease 10.1
23 blood group, gerbich system 10.1
24 isolated optic neuritis 10.1
25 multiple sclerosis 10.1
26 leukemia 10.1
27 bone resorption disease 10.1
28 spondyloenchondrodysplasia 10.1
29 prostate cancer 10.1
30 prostate cancer, hereditary, 8 10.1
31 prostate cancer, hereditary, 6 10.1
32 diabetes mellitus 10.1
33 primary orthostatic tremor 10.0
34 osteoporosis 10.0
35 retinoblastoma 10.0
36 rheumatoid arthritis 10.0
37 myelofibrosis 10.0
38 arthritis 10.0
39 osteomalacia 10.0
40 sarcoma 10.0
41 polymyositis 10.0
42 late-onset retinal degeneration 10.0
43 metabolic acidosis 10.0
44 psoriasis 10.0
45 hereditary hypophosphatemic rickets 10.0
46 colorectal cancer 9.9
47 diabetes mellitus, noninsulin-dependent 9.9
48 hashimoto thyroiditis 9.9
49 kaposi sarcoma 9.9
50 systemic lupus erythematosus 9.9

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



Diseases related to Overhydrated Hereditary Stomatocytosis

Symptoms & Phenotypes for Overhydrated Hereditary Stomatocytosis

Human phenotypes related to Overhydrated Hereditary Stomatocytosis:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 hemolytic anemia 33 HP:0001878
4 jaundice 33 HP:0000952
5 reticulocytosis 33 HP:0001923
6 hyperbilirubinemia 33 HP:0002904
7 stomatocytosis 33 HP:0004446
8 increased red cell osmotic fragility 33 HP:0005502
9 increased intracellular sodium 33 HP:0003575

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
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

UMLS symptoms related to Overhydrated Hereditary Stomatocytosis:


icterus

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

27
# 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

MalaCards organs/tissues related to Overhydrated Hereditary Stomatocytosis:

42
Bone, Prostate, Thyroid, Myeloid, Brain, Kidney, T Cells

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 "stomatin" gene and protein in overhydrated hereditary stomatocytosis. ( 12750157 )
2003

Variations for Overhydrated Hereditary Stomatocytosis

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

76
# 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 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 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

Biological processes related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 8.62 ANXA5 STOM

Sources for Overhydrated Hereditary Stomatocytosis

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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