DHS1
MCID: DHY016
MIFTS: 48

Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema (DHS1)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Dehydrated Hereditary Stomatocytosis 1 with or Without...

MalaCards integrated aliases for Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

Name: Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 57 12 72
Dehydrated Hereditary Stomatocytosis 57 12 20 58 72 36 13 6 15
Pseudohyperkalemia Edinburgh 57 12 72 6
Hereditary Xerocytosis 12 20 58 72
Xerocytosis, Hereditary 57 73 44
Pshk1 57 12 72
Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 57 6
Dehydrated Hereditary Stomatocytosis 1 12 15
Hereditary Desiccytosis 12 72
Dhs1 57 72
Dhs 57 72
Stomatocytosis, Dehydrated, Hereditary, with/without Pseudohyperkalemia and/or Perinatal Edema 39
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak; Pshk1 57
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak 57
Pseudohyperkalemia Familial 1, Due to Red Cell Leak 12
Familial Pseudohyperkalemia 1 Due to Red Cell Leak 72
Dehydrated Hereditary Stomatocytosis; Dhs 57
Desiccytosis, Hereditary 57
Desiccytosis Hereditary 20
Xerocytosis Hereditary 20
Xerocytosis 70

Characteristics:

Orphanet epidemiological data:

58
dehydrated hereditary stomatocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
splenectomy increases thrombotic risk in these patients
episodes of fatigue or weakness (in some patients)
hemolysis may be exercise-induced


HPO:

31
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Dehydrated Hereditary Stomatocytosis 1 with or Without...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3202 Definition Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Epidemiology The prevalence of DHS is unknown but to date, about 20 families with DHS have been described in the literature. Clinical description The clinical presentation of the disease is very heterogeneous. Onset of DHS may occur during the perinatal period with occurrence of edema and ascites (most often not related to an underlying anemia ) that usually resolve spontaneously during the first weeks of life but may rarely lead to hydrops fetalis (see this term). Most adult patients present a mild anemia or a totally compensated hemolysis, with fatigue, icterus, splenomegaly and risks of secondary complications including cholelithiasis. Patients can also be referred for unexplained hemochromatosis, since iron overload is frequently associated with the disease. Thrombotic complications (arterial and venous events, including portal vein thrombosis (see this term) and pulmonary hypertension ) have been described at a high rate after splenectomy. Etiology Most reported DHS cases are caused by gain-of-function mutations in the gene PIEZO1 (16q24.3) which encodes part of a mechanosensitive ion channel. This results in increased red cell membrane permeability for cations that consequently leads to cation depletion, dehydration and shortened red cell survival. Rare atypical forms have been associated with mutations in SLC4A1 (17q21.31), coding for the Band 3 anion transport protein, or KCNN4 (19q13.2) which codes for the putative Gardos channel. Diagnostic methods Diagnosis relies on laboratory findings. The typical presentation includes normal hemoglobin level or mild anemia, normal mean cell volume (MCV) or mild macrocytosis, normal or elevated mean corpuscular hemoglobin concentration (MCHC), elevated reticulocytosis, and a small number of stomatocytes (<10% of red cells). A diagnosis of DHS must be evoked in patients with unexplained iron overload, even if hemoglobin levels are normal, as well as in patients with unexplained hemolysis (before splenectomy) or those presenting with thrombotic events, if already splenectomized. Osmolar gradient ektacytometry is the best phenotypic diagnosis method, showing a leftward shift of the bell-shaped curve with a normal maximum deformability index and a decreased hypo and hyper-osmotic point, reflecting decreased osmotic fragility and cell dehydration, respectively. In some cases, an increased serum potassium level is observed, which results from in vitro leakage and is clinically irrelevant. Measurement of ferritin level and liver magnetic resonance imaging (MRI) are performed to evaluate iron overload. Genetic screening of the causative genes can be performed after phenotypic investigations. Differential diagnosis Differential diagnoses include other causes of hemolysis, including hereditary spherocytosis, overhydrated hereditary stomatocytosis, hemoglobinopathy or red cell enzyme deficiencies such as hemolytic anemia due to red cell pyruvate kinase deficiency (see these terms). Genetic counseling Transmission is autosomal dominant and genetic counseling should be offered to affected families. Management and treatment Treatment is mainly symptomatic. Occurrence of cholelithiasis should be regularly monitored. Folic acid supplementation should be proposed in case of anemia. Pregnancy should be closely monitored. Iron status should be regularly monitored by serum ferritinemia and liver MRI. Iron depletion, most often by phlebotomy, is proposed when ferritinemia reaches the threshold of 1000 ng/ml or when iron liver overload is present. Splenectomy is contraindicated in DHS due to an elevated risk of life threatening arterial and venous thrombotic events. Prognosis Overall prognosis is favorable in well managed patients (not splenectomized and with regular monitoring of their iron status). Splenectomized patients are at risk of early or late thrombotic events.

MalaCards based summary : Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema, also known as dehydrated hereditary stomatocytosis, is related to hereditary stomatocytosis and hemolytic anemia. An important gene associated with Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1), and among its related pathways/superpathways is RAB geranylgeranylation. Affiliated tissues include liver, spleen and heart, and related phenotypes are increased red cell osmotic fragility and nonspherocytic hemolytic anemia

Disease Ontology : 12 A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.

OMIM® : 57 Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013). Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see 611184.0016). The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999). Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see 609153), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see 609153), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. (194380) (Updated 05-Apr-2021)

KEGG : 36 Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate hemolytic anemia. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated mean corpuscular hemoglobin concentration (MCHC) and mean corpuscular volume (MCV), and decreased osmotic fragility. The definitive diagnosis of DHS is made by osmotic gradient ektacytometry, which shows a leftward shift of the bell-shaped curve. In many patients, heterozygous mutations in the mechanosensitive cation channel gene PIEZO1 have been identified. Mutations in the Gardos channel, encoded by the KCNN4 gene, have also been identified.

UniProtKB/Swiss-Prot : 72 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis.

Wikipedia : 73 Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which... more...

Related Diseases for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Diseases related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 hereditary stomatocytosis 31.5 STOM SLC4A1 PIEZO1 LOC100289580 KCNN4
2 hemolytic anemia 31.0 STOM SLC4A1 PIEZO1 KCNN4
3 overhydrated hereditary stomatocytosis 11.3
4 deafness-hypogonadism syndrome 11.0
5 dehydrated hereditary stomatocytosis 2 11.0
6 hemosiderosis 10.4
7 congenital hemolytic anemia 10.4
8 rare hereditary hemochromatosis 10.4
9 lymphatic malformation 6 10.3 PIEZO1 LOC100289580
10 pseudohyperkalemia, familial, 2, due to red cell leak 10.3
11 splenomegaly 10.3
12 cryohydrocytosis 10.3 STOM SLC4A1
13 glutamate-cysteine ligase deficiency 10.3 SLC4A1 PIEZO1 KCNN4
14 hereditary elliptocytosis 10.2 STOM SLC4A1 PIEZO1
15 rh deficiency syndrome 10.2 STOM KCNN4
16 hereditary spherocytosis 10.2
17 malaria 10.2
18 avascular necrosis 10.2
19 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.1
20 pseudohypoaldosteronism, type iid 10.1
21 pulmonary hypertension 10.1
22 cholestasis 10.1
23 splenic infarction 10.1
24 chronic thromboembolic pulmonary hypertension 10.1
25 choroid disease 10.1 CHML CHM
26 thalassemia 10.1
27 coxa vara 10.1
28 allergic disease 10.1
29 tetanus 10.0
30 arthrogryposis, distal, type 3 10.0 PIEZO2 PIEZO1
31 red cell phospholipid defect with hemolysis 10.0
32 iron-refractory iron deficiency anemia 10.0
33 pyruvate kinase deficiency of red cells 10.0
34 beta-thalassemia 10.0
35 cholelithiasis 10.0
36 microcytic anemia 10.0
37 iron deficiency anemia 10.0
38 iron metabolism disease 10.0
39 bilirubin metabolic disorder 10.0
40 glucosephosphate dehydrogenase deficiency 10.0
41 thrombophlebitis 10.0
42 hypoglycemia 10.0
43 sickle cell disease 10.0
44 rare hemolytic anemia 10.0
45 osteoporosis 10.0
46 coronary heart disease 1 10.0
47 bone mineral density quantitative trait locus 8 10.0
48 bone mineral density quantitative trait locus 15 10.0
49 deficiency anemia 10.0
50 neuroblastoma 10.0

Graphical network of the top 20 diseases related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:



Diseases related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema

Symptoms & Phenotypes for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Human phenotypes related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased red cell osmotic fragility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005502
2 nonspherocytic hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001930
3 splenomegaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0001744
4 cholelithiasis 58 31 occasional (7.5%) Frequent (79-30%) HP:0001081
5 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
6 macrocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001972
7 increased total bilirubin 58 31 frequent (33%) Frequent (79-30%) HP:0003573
8 schistocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001981
9 increased circulating ferritin concentration 31 occasional (7.5%) HP:0003281
10 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
11 abnormal blood potassium concentration 31 frequent (33%) HP:0011042
12 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
13 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
14 increased mean corpuscular volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0005518
15 neonatal hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003265
16 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
17 congenital hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004804
18 intermittent jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001046
19 increased mean corpuscular hemoglobin concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0025548
20 episodic fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012431
21 increased hemoglobin concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0020063
22 hepatomegaly 31 occasional (7.5%) HP:0002240
23 hepatitis 31 occasional (7.5%) HP:0012115
24 pallor 31 occasional (7.5%) HP:0000980
25 jaundice 31 occasional (7.5%) HP:0000952
26 hemoglobinuria 31 occasional (7.5%) HP:0003641
27 polycythemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001901
28 portal vein thrombosis 58 31 very rare (1%) Very rare (<4-1%) HP:0030242
29 pulmonary venous hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0030950
30 conjunctival icterus 31 very rare (1%) HP:0032106
31 hemolytic anemia 58 Very frequent (99-80%)
32 increased serum ferritin 58 Frequent (79-30%)
33 anemia of inadequate production 58 Occasional (29-5%)
34 increased lactate dehydrogenase activity 58 Frequent (79-30%)
35 abnormality of potassium homeostasis 58 Frequent (79-30%)
36 exercise-induced hemolysis 31 HP:0005535
37 increased red cell hemolysis by shear stress 31 HP:0008269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
increased mean corpuscular hemoglobin concentration
increased red cell hemolysis by shear stress
increased reticulocyte count
anemia, chronic hemolytic
macrocytosis (in some patients)
more
Cardiovascular Heart:
pericardial effusion, perinatal (rare)

Respiratory Lung:
pleural effusion, perinatal (rare)

Abdomen Liver:
hepatomegaly (in some patients)
hepatosiderosis (rare)
hepatitis (rare)

Abdomen Spleen:
splenomegaly (in some patients)

Skin Nails Hair Skin:
jaundice, intermittent (in some patients)
pallor (in some patients)

Laboratory Abnormalities:
pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)
increased serum bilirubin (in some patients)
decreased serum haptoglobin (in some patients)
increased serum ferritin (in some patients)
iron overload (in some patients)

Head And Neck Eyes:
scleral icterus (in some patients)

Cardiovascular Vascular:
thrombosis, susceptibility to (post-splenectomy patients)

Abdomen:
ascites, perinatal (in some patients)

Abdomen Biliary Tract:
cholelithiasis (in some patients)

Genitourinary Kidneys:
hemoglobinuria (in some patients)

Muscle Soft Tissue:
edema, generalized perinatal (in some patients)

Clinical features from OMIM®:

194380 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 CHM CTTNBP2 CYP51A1 DOK1 ICMT KCNN4
2 hematopoietic system MP:0005397 9.36 CTTNBP2 DOK1 ICMT KCNN4 NCOR2 PIEZO1

Drugs & Therapeutics for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Explananatory, Proof-of-concept Study of Senicapoc in Patients With Familial Dehydrated Stomatocytosis Caused by the V282M Mutation in the Gardos (KCNN4) Channel Not yet recruiting NCT04372498 Phase 1, Phase 2 Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)

Search NIH Clinical Center for Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema

Cochrane evidence based reviews: xerocytosis, hereditary

Genetic Tests for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Anatomical Context for Dehydrated Hereditary Stomatocytosis 1 with or Without...

MalaCards organs/tissues related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

40
Liver, Spleen, Heart, Lung

Publications for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Articles related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 61 57 6
23479567 2013
2
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. 61 6 57
23695678 2013
3
Antiphospholipid antibodies in a family with dehydrated hereditary stomatocytosis. 61 57 6
18377960 2008
4
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation. 61 57 6
17253968 2007
5
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. 57 6 61
16898969 2006
6
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. 6 57 61
11001917 2000
7
A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. 61 6 57
9827909 1998
8
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). 61 6 57
9718354 1998
9
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. 6 57
29576450 2018
10
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 57 6
22529292 2012
11
Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. 6 57
21944700 2011
12
Fragmentation and myelin formation in hereditary xerocytosis and other hemolytic anemias. 57 6
687829 1978
13
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. 6 57
4851153 1974
14
A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality. 6 57
5559828 1971
15
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 61 6
26178367 2015
16
Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. 57 61
15238150 2004
17
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. 61 57
15071792 2004
18
Dehydrated hereditary stomatocytosis with transient perinatal ascites. 57 61
12937055 2003
19
Portal vein thrombosis after splenectomy for hereditary stomatocytosis in childhood. 61 57
10445340 1999
20
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). 57 61
10216110 1999
21
Dehydrated hereditary stomatocytosis--a report of two families and a review of the literature. 57 61
6462777 1984
22
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. 6
26198474 2015
23
A mutation in the Gardos channel is associated with hereditary xerocytosis. 6
26148990 2015
24
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. 57
25790109 2015
25
Hereditary red cell membrane disorders and laboratory diagnostic testing. 57
23480868 2013
26
Hereditary stomatocytosis and cation-leaky red cells--recent developments. 57
19261491 2009
27
The hydration state of human red blood cells and their susceptibility to invasion by Plasmodium falciparum. 57
15728121 2005
28
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 57
15470366 2004
29
Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form. 57
15142123 2004
30
Recurrent thromboembolism in a familial pseudohyperkalaemia patient with an intact spleen. 57
12472603 2002
31
Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach. 57
8652859 1996
32
Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. 57
8639421 1996
33
Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membrane. 57
7669659 1995
34
Occurrence of hereditary leaky red cell syndrome and partial coagulation factor VII deficiency in a Spanish family. 57
1666726 1991
35
Excess of red cell membrane proteins in hereditary high-phosphatidylcholine hemolytic anemia. 57
2363413 1990
36
Hereditary xerocytosis. A case history and review of the literature. 57
6462778 1984
37
Inherited red cell dehydration: a hemolytic syndrome in search of a name. 57
6462773 1984
38
Passive cation transport in hereditary xerocytosis. 6
6473461 1984
39
Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. 57
7276163 1981
40
Familial pseudohyperkalaemia. 57
6102224 1980
41
Increased erythrocyte lipid peroxidation in hereditary xerocytosis. 57
509735 1979
42
An erythrocyte membrane-protein anomaly in march haemoglobinuria. 57
91785 1979
43
Familial pseudohyperkalaemia. A new syndrome. 57
89283 1979
44
Membrane alterations in hereditary xerocytosis: elevated binding of glyceraldehyde-3-phosphate dehydrogenase. 6
652816 1978
45
RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis. 61
32305040 2020
46
Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias. 61
33024524 2020
47
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature. 61
32703298 2020
48
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. 61
31737919 2020
49
Fluorescence microscopy of piezo1 in droplet hydrogel bilayers. 61
30885080 2019
50
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019

Variations for Dehydrated Hereditary Stomatocytosis 1 with or Without...

ClinVar genetic disease variations for Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIEZO1 PIEZO1, E756DEL Deletion Pathogenic 549569 GRCh37:
GRCh38:
2 PIEZO1 NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) SNV Pathogenic 55805 rs587776987 GRCh37: 16:88783293-88783293
GRCh38: 16:88716885-88716885
3 PIEZO1 NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) SNV Pathogenic 55807 rs587776989 GRCh37: 16:88786583-88786583
GRCh38: 16:88720175-88720175
4 PIEZO1 NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) SNV Pathogenic 55808 rs587776990 GRCh37: 16:88791913-88791913
GRCh38: 16:88725505-88725505
5 PIEZO1 NM_001142864.4(PIEZO1):c.6059C>T (p.Ala2020Val) SNV Pathogenic 55809 rs587777764 GRCh37: 16:88786582-88786582
GRCh38: 16:88720174-88720174
6 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) SNV Pathogenic 829815 rs1597457977 GRCh37: 16:88800939-88800939
GRCh38: 16:88734531-88734531
7 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.1848+31C>G SNV Pathogenic 55813 rs587777766 GRCh37: 16:88801252-88801252
GRCh38: 16:88734844-88734844
8 KCNN4 NM_002250.3(KCNN4):c.844G>A (p.Val282Met) SNV Pathogenic 372185 rs1057519076 GRCh37: 19:44273957-44273957
GRCh38: 19:43769805-43769805
9 KCNN4 NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) SNV Pathogenic 372186 rs1057519077 GRCh37: 19:44273956-44273956
GRCh38: 19:43769804-43769804
10 PIEZO1 NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3]) Microsatellite Pathogenic 418948 rs587776992 GRCh37: 16:88782090-88782091
GRCh38: 16:88715682-88715683
11 KCNN4 NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) SNV Pathogenic 252601 rs774455945 GRCh37: 19:44273179-44273179
GRCh38: 19:43769027-43769027
12 PIEZO1 NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3]) Microsatellite Pathogenic 418948 rs587776992 GRCh37: 16:88782090-88782091
GRCh38: 16:88715682-88715683
13 PIEZO1 NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) SNV Pathogenic 55806 rs587776988 GRCh37: 16:88782212-88782212
GRCh38: 16:88715804-88715804
14 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.1159G>T (p.Glu387Ter) SNV Pathogenic 1030203 GRCh37: 16:88804003-88804003
GRCh38: 16:88737595-88737595
15 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) SNV Pathogenic 449461 rs934897228 GRCh37: 16:88803079-88803079
GRCh38: 16:88736671-88736671
16 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.2416del (p.Leu806fs) Deletion Pathogenic 1032664 GRCh37: 16:88800067-88800067
GRCh38: 16:88733659-88733659
17 PIEZO1 NM_001142864.4(PIEZO1):c.6058_6059del (p.Ala2020fs) Microsatellite Pathogenic 1033326 GRCh37: 16:88786582-88786583
GRCh38: 16:88720174-88720175
18 KCNN4 NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) SNV Pathogenic 978810 GRCh37: 19:44273703-44273703
GRCh38: 19:43769551-43769551
19 PIEZO1 NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) SNV Likely pathogenic 978719 GRCh37: 16:88794069-88794069
GRCh38: 16:88727661-88727661
20 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) SNV Likely pathogenic 978720 GRCh37: 16:88798119-88798119
GRCh38: 16:88731711-88731711
21 PIEZO1 NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) SNV Likely pathogenic 55811 rs587776991 GRCh37: 16:88786073-88786073
GRCh38: 16:88719665-88719665
22 PIEZO1 NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) SNV Uncertain significance 983306 GRCh37: 16:88786253-88786253
GRCh38: 16:88719845-88719845
23 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) SNV Uncertain significance 548456 rs769506340 GRCh37: 16:88798203-88798203
GRCh38: 16:88731795-88731795
24 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.1020+14A>G SNV Uncertain significance 1030202 GRCh37: 16:88804328-88804328
GRCh38: 16:88737920-88737920
25 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) SNV Uncertain significance 982873 GRCh37: 16:88798874-88798874
GRCh38: 16:88732466-88732466
26 PIEZO1 NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) SNV Uncertain significance 987920 GRCh37: 16:88788731-88788731
GRCh38: 16:88722323-88722323
27 PIEZO1 NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) SNV Uncertain significance 1032665 GRCh37: 16:88787048-88787048
GRCh38: 16:88720640-88720640
28 PIEZO1 NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) SNV Uncertain significance 1033325 GRCh37: 16:88787035-88787035
GRCh38: 16:88720627-88720627
29 PIEZO1 NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) SNV Uncertain significance 1030207 GRCh37: 16:88782026-88782026
GRCh38: 16:88715618-88715618
30 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.849-5G>A SNV Uncertain significance 1030208 GRCh37: 16:88804518-88804518
GRCh38: 16:88738110-88738110
31 PIEZO1 , LOC100289580 NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) SNV Uncertain significance 989266 GRCh37: 16:88800434-88800434
GRCh38: 16:88734026-88734026
32 PIEZO1 NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) SNV Benign 930833 GRCh37: 16:88783288-88783288
GRCh38: 16:88716880-88716880

UniProtKB/Swiss-Prot genetic disease variations for Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 PIEZO1 p.Gly718Ser VAR_069822 rs755885744
2 PIEZO1 p.Gly782Ser VAR_069823 rs200970763
3 PIEZO1 p.Arg808Gln VAR_069824 rs202103485
4 PIEZO1 p.Ser1117Leu VAR_069825 rs587777765
5 PIEZO1 p.Arg1358Pro VAR_069826 rs587776990
6 PIEZO1 p.Ala2003Asp VAR_069827
7 PIEZO1 p.Ala2020Thr VAR_069828 rs587776989
8 PIEZO1 p.Ala2020Val VAR_069829 rs587777764
9 PIEZO1 p.Thr2127Met VAR_069830 rs587776991
10 PIEZO1 p.Met2225Arg VAR_069832 rs587776987
11 PIEZO1 p.Arg2456His VAR_069833 rs587776988
12 PIEZO1 p.Arg2488Gln VAR_069834 rs749288233

Expression for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Search GEO for disease gene expression data for Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema.

Pathways for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Pathways related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 PTP4A2 CHML CHM

GO Terms for Dehydrated Hereditary Stomatocytosis 1 with or Without...

Cellular components related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab-protein geranylgeranyltransferase complex GO:0005968 8.62 CHML CHM

Biological processes related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.46 PTP4A2 ICMT CHML CHM
2 detection of mechanical stimulus GO:0050982 8.96 PIEZO2 PIEZO1
3 protein geranylgeranylation GO:0018344 8.62 CHML CHM

Molecular functions related to Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP-dissociation inhibitor activity GO:0005092 8.96 CHML CHM
2 mechanosensitive ion channel activity GO:0008381 8.62 PIEZO2 PIEZO1

Sources for Dehydrated Hereditary Stomatocytosis 1 with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....