DHS1
MCID: DHY016
MIFTS: 54

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases
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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 11 73
Dehydrated Hereditary Stomatocytosis 57 11 19 58 73 12 14
Hereditary Xerocytosis 11 19 58 73
Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 57 28 5
Pseudohyperkalemia Edinburgh 57 11 73
Xerocytosis, Hereditary 57 75 43
Pshk1 57 11 73
Dehydrated Hereditary Stomatocytosis 1 11 14
Hereditary Desiccytosis 11 73
Dhs1 57 73
Dhs 57 73
Stomatocytosis, Dehydrated, Hereditary, with/without Pseudohyperkalemia and/or Perinatal Edema 38
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak 57
Pseudohyperkalemia Familial 1, Due to Red Cell Leak 11
Familial Pseudohyperkalemia 1 Due to Red Cell Leak 73
Desiccytosis, Hereditary 57
Desiccytosis Hereditary 19
Xerocytosis Hereditary 19
Xerocytosis 71

Characteristics:


Inheritance:

Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema: Autosomal dominant 57
Dehydrated Hereditary Stomatocytosis: Autosomal dominant 58

Prevelance:

Dehydrated Hereditary Stomatocytosis: <1/1000000 (Worldwide) 58

Age Of Onset:

Dehydrated Hereditary Stomatocytosis: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
splenectomy increases thrombotic risk in these patients
episodes of fatigue or weakness (in some patients)
hemolysis may be exercise-induced


Classifications:

Orphanet: 58  
Rare haematological diseases


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

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 08-Dec-2022)

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 pseudohyperkalemia, familial, 2, due to red cell leak. 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 are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. Affiliated tissues include spleen, monocytes and lung, and related phenotypes are increased red cell osmotic fragility and nonspherocytic hemolytic anemia

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology 11 Dehydrated hereditary stomatocytosis: 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.

Dehydrated hereditary stomatocytosis 1: A dehydrated hereditary stomatocytosis that has material basis in heterozygous mutation in PIEZO1 on chromosome 16q24.3.

Wikipedia: 75 Hereditary stomatocytosis describes a number of inherited, mostly autosomal dominant human conditions... 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 133)
# Related Disease Score Top Affiliating Genes
1 hereditary stomatocytosis 31.7 STOM RHAG PIEZO1 KCNN4
2 pseudohyperkalemia, familial, 2, due to red cell leak 30.9 SLC4A1 ABCB6
3 pyruvate kinase deficiency of red cells 30.5 SPTA1 PIEZO1 EPB42
4 congenital hemolytic anemia 30.3 SPTA1 SLC4A1 PIEZO1 ERFE EPB42 EPB41
5 glucosephosphate dehydrogenase deficiency 30.3 SPTA1 SLC4A1 PIEZO1
6 malaria 30.3 STOM SPTA1 SLC4A1 PIEZO1 GYPC ANK1
7 overhydrated hereditary stomatocytosis 30.1 STOML3 STOM SLC4A1 RHAG PIEZO1 EPB42
8 hemolytic anemia 30.0 STOM SPTA1 SLC4A1 SLC2A1 RHAG PIEZO1
9 hereditary spherocytosis 29.4 STOM SPTA1 SLC4A1 RHAG PIEZO1 KCNN4
10 dehydrated hereditary stomatocytosis 2 11.0
11 deafness-hypogonadism syndrome 11.0
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
13 deficiency anemia 10.4
14 lymphatic malformation 6 10.3 PIEZO1 LOC100289580
15 hydrops fetalis, nonimmune 10.3
16 splenomegaly 10.3
17 diarrhea 10.3
18 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.3
19 children's interstitial lung disease 10.3
20 dystonia 9 10.3 STOM SLC2A1
21 glutamate-cysteine ligase deficiency 10.3 SPTA1 SLC4A1 PIEZO1
22 nystagmus 3, congenital, autosomal dominant 10.2 EPB41 ABCB6
23 cryohydrocytosis 10.2 STOM SLC4A1 SLC2A1
24 osteopetrosis, autosomal recessive 6 10.2 SLC4A1 ABCB6
25 anemia, congenital dyserythropoietic, type ib 10.2 KCNN4 CDAN1
26 congenital nonspherocytic hemolytic anemia 10.2 SPTA1 PIEZO1 EPB42
27 congenital dyserythropoietic anemia 10.2 SLC4A1 ERFE CDAN1
28 oculodentodigital dysplasia 10.2
29 tetanus 10.2
30 nutritional deficiency disease 10.2
31 avascular necrosis 10.2
32 anemia, congenital dyserythropoietic, type iiia 10.2 SPTA1 EPB42 CDAN1
33 hemochromatosis, neonatal 10.1
34 sickle cell anemia 10.1
35 pseudohypoaldosteronism, type iid 10.1
36 pseudohypoaldosteronism, type iie 10.1
37 pulmonary hypertension 10.1
38 cholestasis 10.1
39 iron metabolism disease 10.1
40 splenic infarction 10.1
41 chronic thromboembolic pulmonary hypertension 10.1
42 anemia, congenital dyserythropoietic, type ii 10.1 PIEZO1 KCNN4 ERFE CDAN1
43 thalassemia 10.1
44 rare hemolytic anemia 10.1
45 spinocerebellar ataxia 5 10.1 EPB41 ANK1
46 coxa vara 10.1
47 allergic disease 10.1
48 measles 10.1
49 erythrocytosis, familial, 7 10.1 PIEZO1 CDAN1
50 osteoporosis 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 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased red cell osmotic fragility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005502
2 nonspherocytic hemolytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001930
3 splenomegaly 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001744
4 cholelithiasis 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001081
5 reticulocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001923
6 macrocytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001972
7 increased total bilirubin 58 30 Frequent (33%) Frequent (79-30%)
HP:0003573
8 schistocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001981
9 increased circulating lactate dehydrogenase concentration 30 Frequent (33%) HP:0025435
10 increased circulating ferritin concentration 30 Occasional (7.5%) HP:0003281
11 abnormal blood potassium concentration 30 Frequent (33%) HP:0011042
12 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027
13 edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000969
14 increased mean corpuscular volume 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005518
15 neonatal hyperbilirubinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003265
16 thromboembolism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001907
17 congenital hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004804
18 intermittent jaundice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001046
19 increased mean corpuscular hemoglobin concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025548
20 episodic fatigue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012431
21 increased hemoglobin concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0020063
22 hepatomegaly 30 Occasional (7.5%) HP:0002240
23 hepatitis 30 Occasional (7.5%) HP:0012115
24 pallor 30 Occasional (7.5%) HP:0000980
25 jaundice 30 Occasional (7.5%) HP:0000952
26 hemoglobinuria 30 Occasional (7.5%) HP:0003641
27 polycythemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001901
28 portal vein thrombosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030242
29 pulmonary venous hypertension 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030950
30 conjunctival icterus 30 Very rare (1%) HP:0032106
31 hemolytic anemia 58 Very frequent (99-80%)
32 increased serum ferritin 58 Frequent (79-30%)
33 increased lactate dehydrogenase activity 58 Frequent (79-30%)
34 anemia of inadequate production 58 Occasional (29-5%)
35 abnormality of potassium homeostasis 58 Frequent (79-30%)
36 exercise-induced hemolysis 30 HP:0005535
37 increased red cell hemolysis by shear stress 30 HP:0008269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ABCB6 ADD1 ANK1 CDAN1 CYP51A1 EPB41
2 no effect GR00402-S-2 10.17 ABCB6 ADD1 CDAN1 CYP51A1 EPB41 KCNN4

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.09 ABCB6 ADD1 ANK1 CDAN1 CYP51A1 EPB41
2 hematopoietic system MP:0005397 9.83 ABCB6 ADD1 ANK1 CDAN1 EPB41 EPB42
3 mortality/aging MP:0010768 9.44 ABCB6 ADD1 ANK1 CDAN1 CYP51A1 EPB41

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 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...

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

# Genetic test Affiliating Genes
1 Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 28 PIEZO1

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

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

MalaCards : Spleen, Monocytes, Lung, Heart, Liver, Brain

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 185)
# Title Authors PMID Year
1
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. 62 57 5
29576450 2018
2
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 62 57 5
23479567 2013
3
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. 62 57 5
23695678 2013
4
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 62 57 5
22529292 2012
5
Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. 62 57 5
21944700 2011
6
Antiphospholipid antibodies in a family with dehydrated hereditary stomatocytosis. 62 57 5
18377960 2008
7
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation. 62 57 5
17253968 2007
8
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. 62 57 5
16898969 2006
9
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. 62 57 5
11001917 2000
10
A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. 62 57 5
9827909 1998
11
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). 62 57 5
9718354 1998
12
A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality. 57 5
5559828 1971
13
Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. 62 57
15238150 2004
14
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. 62 57
15071792 2004
15
Dehydrated hereditary stomatocytosis with transient perinatal ascites. 62 57
12937055 2003
16
Portal vein thrombosis after splenectomy for hereditary stomatocytosis in childhood. 62 57
10445340 1999
17
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). 62 57
10216110 1999
18
Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membrane. 62 57
7669659 1995
19
Hereditary xerocytosis. A case history and review of the literature. 62 57
6462778 1984
20
Dehydrated hereditary stomatocytosis--a report of two families and a review of the literature. 62 57
6462777 1984
21
Increased erythrocyte lipid peroxidation in hereditary xerocytosis. 62 57
509735 1979
22
Fragmentation and myelin formation in hereditary xerocytosis and other hemolytic anemias. 62 57
687829 1978
23
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. 5
28518170 2017
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
Occurrence of hereditary leaky red cell syndrome and partial coagulation factor VII deficiency in a Spanish family. 57
1666726 1991
34
Excess of red cell membrane proteins in hereditary high-phosphatidylcholine hemolytic anemia. 57
2363413 1990
35
Inherited red cell dehydration: a hemolytic syndrome in search of a name. 57
6462773 1984
36
Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. 57
7276163 1981
37
Familial pseudohyperkalaemia. 57
6102224 1980
38
An erythrocyte membrane-protein anomaly in march haemoglobinuria. 57
91785 1979
39
Familial pseudohyperkalaemia. A new syndrome. 57
89283 1979
40
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. 57
4851153 1974
41
A Gardos channelopathy associated with nonimmune hydrops and fetal loss. 62
36031591 2022
42
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels. 62
35715699 2022
43
PIEZO1, sensing the touch during erythropoiesis. 62
35441597 2022
44
Global PIEZO1 Gain-of-Function Mutation Causes Cardiac Hypertrophy and Fibrosis in Mice. 62
35406763 2022
45
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity. 62
35030515 2022
46
Computational studies of Piezo1 yield insights into key lipid-protein interactions, channel activation, and agonist binding. 62
35340596 2022
47
PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings. 62
34477311 2022
48
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration. 62
36003639 2022
49
Diagnosis and clinical management of red cell membrane disorders. 62
34889366 2021
50
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis. 62
33848364 2021

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:

5 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIEZO1 NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) MICROSAT Pathogenic
418948 rs587776992 GRCh37: 16:88782090-88782091
GRCh38: 16:88715682-88715683
2 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) SNV Pathogenic
1707478 GRCh37: 16:88802732-88802732
GRCh38: 16:88736324-88736324
3 PIEZO1 NM_001142864.4(PIEZO1):c.6059C>T (p.Ala2020Val) SNV Pathogenic
55809 rs587777764 GRCh37: 16:88786582-88786582
GRCh38: 16:88720174-88720174
4 PIEZO1 NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) SNV Pathogenic
55806 rs587776988 GRCh37: 16:88782212-88782212
GRCh38: 16:88715804-88715804
5 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1848+31C>G SNV Pathogenic
55813 rs587777766 GRCh37: 16:88801252-88801252
GRCh38: 16:88734844-88734844
6 PIEZO1 NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) SNV Pathogenic
55805 rs587776987 GRCh37: 16:88783293-88783293
GRCh38: 16:88716885-88716885
7 PIEZO1 NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) SNV Pathogenic
55807 rs587776989 GRCh37: 16:88786583-88786583
GRCh38: 16:88720175-88720175
8 PIEZO1 NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) SNV Pathogenic
55808 rs587776990 GRCh37: 16:88791913-88791913
GRCh38: 16:88725505-88725505
9 KCNN4 NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) SNV Pathogenic
978810 rs1969582489 GRCh37: 19:44273703-44273703
GRCh38: 19:43769551-43769551
10 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) SNV Pathogenic
829815 rs1597457977 GRCh37: 16:88800939-88800939
GRCh38: 16:88734531-88734531
11 PIEZO1 NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter) SNV Pathogenic
1344888 GRCh37: 16:88808480-88808480
GRCh38: 16:88742072-88742072
12 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) MICROSAT Pathogenic
440061 rs59446030 GRCh37: 16:88800373-88800375
GRCh38: 16:88733965-88733967
13 PIEZO1 NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) SNV Likely Pathogenic
Likely Pathogenic
978719 rs1904552378 GRCh37: 16:88794069-88794069
GRCh38: 16:88727661-88727661
14 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) SNV Likely Pathogenic
Likely Pathogenic
978720 rs1904821405 GRCh37: 16:88798119-88798119
GRCh38: 16:88731711-88731711
15 PIEZO1 NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) SNV Likely Pathogenic
55811 rs587776991 GRCh37: 16:88786073-88786073
GRCh38: 16:88719665-88719665
16 PIEZO1 NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) SNV Uncertain Significance
983306 rs1027478327 GRCh37: 16:88786253-88786253
GRCh38: 16:88719845-88719845
17 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) SNV Uncertain Significance
989266 rs985377446 GRCh37: 16:88800434-88800434
GRCh38: 16:88734026-88734026
18 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1020+14A>G SNV Uncertain Significance
1030202 rs956707579 GRCh37: 16:88804328-88804328
GRCh38: 16:88737920-88737920
19 PIEZO1 NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) SNV Uncertain Significance
1030207 rs774268616 GRCh37: 16:88782026-88782026
GRCh38: 16:88715618-88715618
20 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.849-5G>A SNV Uncertain Significance
1030208 rs1905373372 GRCh37: 16:88804518-88804518
GRCh38: 16:88738110-88738110
21 PIEZO1 NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) SNV Uncertain Significance
1032665 rs753296407 GRCh37: 16:88787048-88787048
GRCh38: 16:88720640-88720640
22 PIEZO1 NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu) SNV Uncertain Significance
1683545 GRCh37: 16:88788077-88788077
GRCh38: 16:88721669-88721669
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.2860C>T (p.Arg954Trp) SNV Uncertain Significance
982873 rs765257824 GRCh37: 16:88798874-88798874
GRCh38: 16:88732466-88732466
25 PIEZO1 NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) SNV Uncertain Significance
987920 rs906425217 GRCh37: 16:88788731-88788731
GRCh38: 16:88722323-88722323
26 PIEZO1 NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) SNV Uncertain Significance
1033325 rs750027720 GRCh37: 16:88787035-88787035
GRCh38: 16:88720627-88720627
27 PIEZO1 NM_001142864.4(PIEZO1):c.4956-3T>C SNV Benign
381268 rs9935872 GRCh37: 16:88788477-88788477
GRCh38: 16:88722069-88722069
28 PIEZO1 NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) SNV Benign
440035 rs1803382 GRCh37: 16:88783100-88783100
GRCh38: 16:88716692-88716692
29 PIEZO1 NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) MICROSAT Benign
440036 rs3217718 GRCh37: 16:88787608-88787610
GRCh38: 16:88721200-88721202
30 PIEZO1 NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) SNV Benign
440037 rs35159887 GRCh37: 16:88787673-88787673
GRCh38: 16:88721265-88721265
31 PIEZO1 NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) SNV Benign
440038 rs11645197 GRCh37: 16:88791458-88791458
GRCh38: 16:88725050-88725050
32 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) SNV Benign
440039 rs13333358 GRCh37: 16:88803124-88803124
GRCh38: 16:88736716-88736716
33 PIEZO1 NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) SNV Benign
440040 rs2290902 GRCh37: 16:88782676-88782676
GRCh38: 16:88716268-88716268
34 PIEZO1 NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) SNV Benign
440041 rs8057031 GRCh37: 16:88783449-88783449
GRCh38: 16:88717041-88717041
35 PIEZO1 NM_001142864.4(PIEZO1):c.3969-5T>C SNV Benign
440042 rs4782429 GRCh37: 16:88792097-88792097
GRCh38: 16:88725689-88725689
36 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) SNV Benign
440043 rs7184427 GRCh37: 16:88804734-88804734
GRCh38: 16:88738326-88738326
37 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.635-8C>T SNV Benign
440044 rs11076706 GRCh37: 16:88804856-88804856
GRCh38: 16:88738448-88738448
38 PIEZO1 NM_001142864.4(PIEZO1):c.465+8C>T SNV Benign
440045 rs2242164 GRCh37: 16:88807878-88807878
GRCh38: 16:88741470-88741470
39 PIEZO1 NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) SNV Benign
440046 rs6500495 GRCh37: 16:88808743-88808743
GRCh38: 16:88742335-88742335
40 PIEZO1 NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) SNV Benign
440047 rs2911442 GRCh37: 16:88851310-88851310
GRCh38: 16:88784902-88784902
41 PIEZO1 NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) SNV Benign
440048 rs6500491 GRCh37: 16:88783521-88783521
GRCh38: 16:88717113-88717113
42 PIEZO1 NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) SNV Benign
440049 rs8043924 GRCh37: 16:88787704-88787704
GRCh38: 16:88721296-88721296
43 PIEZO1 NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) SNV Benign
440050 rs4782430 GRCh37: 16:88792047-88792047
GRCh38: 16:88725639-88725639
44 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) SNV Benign
440051 rs6500493 GRCh37: 16:88803982-88803982
GRCh38: 16:88737574-88737574
45 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) SNV Benign
618273 rs35597347 GRCh37: 16:88798869-88798869
GRCh38: 16:88732461-88732461
46 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2329+19G>A SNV Benign
994106 rs2306050 GRCh37: 16:88800295-88800295
GRCh38: 16:88733887-88733887
47 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1557+16C>G SNV Benign
994107 rs734918 GRCh37: 16:88802540-88802540
GRCh38: 16:88736132-88736132
48 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.848+17C>T SNV Benign
994109 rs8060643 GRCh37: 16:88804618-88804618
GRCh38: 16:88738210-88738210
49 PIEZO1 NM_001142864.4(PIEZO1):c.3699+20G>C SNV Benign
994164 rs4424896 GRCh37: 16:88793103-88793103
GRCh38: 16:88726695-88726695
50 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.2992-23A>G SNV Benign
1327013 GRCh37: 16:88798341-88798341
GRCh38: 16:88731933-88731933

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

73 (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
Show member pathways
12.3 STOML3 STOM SLC4A1 SLC2A1 RHAG ADD1
2
Show member pathways
11.69 SLC4A1 SLC2A1 RHAG ABCB6
3 10.65 SPTA1 ANK1

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 membrane GO:0016021 10.82 ABCB6 CDAN1 CYP51A1 EPB41 GYPC KCNN4
2 membrane GO:0016020 10.82 ABCB6 ADD1 ANK1 CDAN1 CYP51A1 EPB41
3 plasma membrane GO:0005886 10.45 ABCB6 ADD1 ANK1 CDAN1 EPB41 EPB42
4 plasma membrane GO:0005887 10.45 GYPC RHAG SLC2A1 SLC4A1 STOM
5 cytoplasmic side of plasma membrane GO:0009898 9.8 SPTA1 SLC4A1 ANK1
6 spectrin-associated cytoskeleton GO:0014731 9.43 SPTA1 EPB41 ANK1
7 cortical cytoskeleton GO:0030863 9.28 SPTA1 SLC4A1 GYPC EPB42 EPB41

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 cellular response to mechanical stimulus GO:0071260 9.8 SLC2A1 PIEZO2 PIEZO1
2 positive regulation of protein binding GO:0032092 9.73 SPTA1 EPB41 ADD1
3 detection of mechanical stimulus GO:0050982 9.67 PIEZO2 PIEZO1
4 monoatomic ion homeostasis GO:0050801 9.58 SLC4A1 EPB42
5 porphyrin-containing compound biosynthetic process GO:0006779 9.46 SPTA1 ABCB6
6 cellular monoatomic ion homeostasis GO:0006873 9.26 SLC4A1 RHAG
7 hemoglobin metabolic process GO:0020027 8.8 EPB42 ADD1

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 mechanosensitive monoatomic ion channel activity GO:0008381 9.46 PIEZO2 PIEZO1
2 spectrin binding GO:0030507 9.43 EPB41 ANK1 ADD1
3 structural constituent of cytoskeleton GO:0005200 9.28 SPTA1 EPB42 EPB41 ANK1 ADD1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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