DHS1
MCID: DHY016
MIFTS: 35

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver 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 58 76
Dehydrated Hereditary Stomatocytosis 58 54 76 38 13
Pseudohyperkalemia Edinburgh 58 76
Xerocytosis, Hereditary 58 77
Hereditary Xerocytosis 54 76
Pshk1 58 76
Dhs1 58 76
Dhs 58 76
Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema 58
Stomatocytosis, Dehydrated, Hereditary, with/without Pseudohyperkalemia and/or Perinatal Edema 41
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak; Pshk1 58
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak 58
Familial Pseudohyperkalemia 1 Due to Red Cell Leak 76
Dehydrated Hereditary Stomatocytosis; Dhs 58
Desiccytosis, Hereditary 58
Desiccytosis Hereditary 54
Hereditary Desiccytosis 76
Xerocytosis Hereditary 54
Xerocytosis 74

Characteristics:

OMIM:

58
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:

33
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema:
Inheritance autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3202Disease definitionDehydrated 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.EpidemiologyThe prevalence of DHS is unknown but to date, about 20 families with DHS have been described in the literature.Clinical descriptionThe 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.EtiologyMost reported DHS cases are caused by gain-of-function mutations in the genePIEZO1 (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 methodsDiagnosis 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 (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 diagnosisDifferential 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 counselingTransmission is autosomal dominant and genetic counseling should be offered to affected families.Management and treatmentTreatment 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.PrognosisOverall 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema, also known as dehydrated hereditary stomatocytosis, is related to dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema and dermatitis herpetiformis. 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). Affiliated tissues include spleen, liver and heart, and related phenotypes are splenomegaly and hepatomegaly

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 56)
# Related Disease Score Top Affiliating Genes
1 dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 12.6
2 dermatitis herpetiformis 12.0
3 dermatitis herpetiformis, familial 11.4
4 stomatocytosis i 11.3
5 dehydrated hereditary stomatocytosis 2 11.2
6 deafness-hypogonadism syndrome 11.1
7 pseudohyperkalemia, familial, 2, due to red cell leak 10.2
8 pulmonary hypertension 10.2
9 hepatitis 10.2
10 cholestasis 10.2
11 dermatitis 10.1
12 pyruvate kinase deficiency of red cells 10.1
13 beta-thalassemia 10.1
14 thalassemia 10.1
15 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.1
16 isolated optic neuritis 10.1
17 multiple sclerosis 10.0
18 raine syndrome 10.0
19 malaria 10.0
20 deficiency anemia 10.0
21 spindle cell hemangioma 10.0
22 rheumatoid arthritis 9.9
23 neuroblastoma 1 9.9
24 nance-horan syndrome 9.9
25 persistent polyclonal b-cell lymphocytosis 9.9
26 coronary heart disease 1 9.9
27 kawasaki disease 9.9
28 b-cell expansion with nfkb and t-cell anergy 9.9
29 al-raqad syndrome 9.9
30 helix syndrome 9.9
31 arthritis 9.9
32 osteonecrosis 9.9
33 dengue shock syndrome 9.9
34 common cold 9.9
35 borderline personality disorder 9.9
36 heart disease 9.9
37 hemopericardium 9.9
38 pericardial effusion 9.9
39 allergic hypersensitivity disease 9.9
40 optic neuritis 9.9
41 diarrhea 9.9
42 personality disorder 9.9
43 vascular disease 9.9
44 neuritis 9.9
45 melanoma 9.9
46 relapsing-remitting multiple sclerosis 9.9
47 adenocarcinoma 9.9
48 gastric adenocarcinoma 9.9
49 scrapie 9.9
50 pneumonia 9.9

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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 occasional (7.5%) HP:0001744
2 hepatomegaly 33 occasional (7.5%) HP:0002240
3 hepatitis 33 occasional (7.5%) HP:0012115
4 pallor 33 occasional (7.5%) HP:0000980
5 hemoglobinuria 33 occasional (7.5%) HP:0003641
6 cholelithiasis 33 occasional (7.5%) HP:0001081
7 jaundice 33 occasional (7.5%) HP:0000952
8 increased serum ferritin 33 occasional (7.5%) HP:0003281
9 reticulocytosis 33 HP:0001923
10 increased mean corpuscular hemoglobin concentration 33 HP:0025548
11 increased red cell hemolysis by shear stress 33 HP:0008269
12 exercise-induced hemolysis 33 HP:0005535

Symptoms via clinical synopsis from OMIM:

58
Hematology:
increased reticulocyte count
anemia, chronic hemolytic
macrocytosis (in some patients)
increased mean corpuscular hemoglobin concentration
stomatocytes (may be few in number)
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

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

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

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:

42
Spleen, Liver, Heart, B Cells, Lung, T Cells

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 all 32)
# Title Authors Year
1
Dehydrated Hereditary Stomatocytosis Presenting as Severe Perinatal Ascites and Cholestasis. ( 29952828 )
2019
2
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis. ( 29191841 )
2018
3
Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions. ( 29673682 )
2018
4
Dehydrated hereditary stomatocytosis causing fetal hydrops and perinatal ascites. ( 29767406 )
2018
5
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis. ( 29969830 )
2018
6
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. ( 29576450 )
2018
7
Dehydrated hereditary stomatocytosis. ( 26440377 )
2016
8
Dehydrated hereditary stomatocytosis masquerading as MDS. ( 25927085 )
2015
9
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). ( 26178367 )
2015
10
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. ( 23479567 )
2013
11
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. ( 23695678 )
2013
12
Dehydrated hereditary stomatocytosis and recurrent prenatal ascites. ( 23815216 )
2013
13
Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis). ( 23972832 )
2013
14
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. ( 22529292 )
2012
15
Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. ( 21944700 )
2011
16
First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis. ( 19655317 )
2009
17
Antiphospholipid antibodies in a family with dehydrated hereditary stomatocytosis. ( 18377960 )
2008
18
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation. ( 17253968 )
2007
19
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. ( 16898969 )
2006
20
Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. ( 15238150 )
2004
21
Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies. ( 12749034 )
2003
22
An extreme consequence of splenectomy in dehydrated hereditary stomatocytosis: gradual thrombo-embolic pulmonary hypertension and lung-heart transplantation. ( 12908798 )
2003
23
Dehydrated hereditary stomatocytosis with transient perinatal ascites. ( 12937055 )
2003
24
Dehydrated hereditary stomatocytosis: a cause of prenatal ascites. ( 11787034 )
2001
25
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. ( 11001917 )
2000
26
Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis. ( 9883810 )
1999
27
Dehydrated hereditary stomatocytosis is not linked to the hlK1 locus, a Gardos channel candidate, on chromosome 19q13.2. ( 10189206 )
1999
28
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). ( 10216110 )
1999
29
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). ( 9718354 )
1998
30
A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. ( 9827909 )
1998
31
Dehydrated hereditary stomatocytosis--a report of two families and a review of the literature. ( 6462777 )
1984
32
A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality. ( 5559828 )
1971

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

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

76 (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

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

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO1 NM_001142864.4(PIEZO1): c.6674T> G (p.Met2225Arg) single nucleotide variant Pathogenic rs587776987 GRCh37 Chromosome 16, 88783293: 88783293
2 PIEZO1 NM_001142864.4(PIEZO1): c.6674T> G (p.Met2225Arg) single nucleotide variant Pathogenic rs587776987 GRCh38 Chromosome 16, 88716885: 88716885
3 PIEZO1 NM_001142864.4(PIEZO1): c.7367G> A (p.Arg2456His) single nucleotide variant Pathogenic rs587776988 GRCh37 Chromosome 16, 88782212: 88782212
4 PIEZO1 NM_001142864.4(PIEZO1): c.7367G> A (p.Arg2456His) single nucleotide variant Pathogenic rs587776988 GRCh38 Chromosome 16, 88715804: 88715804
5 PIEZO1 NM_001142864.4(PIEZO1): c.6058G> A (p.Ala2020Thr) single nucleotide variant Pathogenic rs587776989 GRCh37 Chromosome 16, 88786583: 88786583
6 PIEZO1 NM_001142864.4(PIEZO1): c.6058G> A (p.Ala2020Thr) single nucleotide variant Pathogenic rs587776989 GRCh38 Chromosome 16, 88720175: 88720175
7 PIEZO1 NM_001142864.4(PIEZO1): c.4073G> C (p.Arg1358Pro) single nucleotide variant Pathogenic rs587776990 GRCh37 Chromosome 16, 88791913: 88791913
8 PIEZO1 NM_001142864.4(PIEZO1): c.4073G> C (p.Arg1358Pro) single nucleotide variant Pathogenic rs587776990 GRCh38 Chromosome 16, 88725505: 88725505
9 PIEZO1 NM_001142864.4(PIEZO1): c.6059C> T (p.Ala2020Val) single nucleotide variant no interpretation for the single variant rs587777764 GRCh37 Chromosome 16, 88786582: 88786582
10 PIEZO1 NM_001142864.4(PIEZO1): c.6059C> T (p.Ala2020Val) single nucleotide variant no interpretation for the single variant rs587777764 GRCh38 Chromosome 16, 88720174: 88720174
11 PIEZO1 NM_001142864.4(PIEZO1): c.3350C> T (p.Ser1117Leu) single nucleotide variant no interpretation for the single variant rs587777765 GRCh37 Chromosome 16, 88793552: 88793552
12 PIEZO1 NM_001142864.4(PIEZO1): c.3350C> T (p.Ser1117Leu) single nucleotide variant no interpretation for the single variant rs587777765 GRCh38 Chromosome 16, 88727144: 88727144
13 PIEZO1 NM_001142864.4(PIEZO1): c.6380C> T (p.Thr2127Met) single nucleotide variant Pathogenic rs587776991 GRCh37 Chromosome 16, 88786073: 88786073
14 PIEZO1 NM_001142864.4(PIEZO1): c.6380C> T (p.Thr2127Met) single nucleotide variant Pathogenic rs587776991 GRCh38 Chromosome 16, 88719665: 88719665
15 PIEZO1 NM_001142864.4(PIEZO1): c.1848+31C> G single nucleotide variant no interpretation for the single variant rs587777766 GRCh37 Chromosome 16, 88801252: 88801252
16 PIEZO1 NM_001142864.4(PIEZO1): c.1848+31C> G single nucleotide variant no interpretation for the single variant rs587777766 GRCh38 Chromosome 16, 88734844: 88734844
17 PIEZO1 NM_001142864.4(PIEZO1): c.2344G> A (p.Gly782Ser) single nucleotide variant Uncertain significance rs200970763 GRCh37 Chromosome 16, 88800139: 88800139
18 PIEZO1 NM_001142864.4(PIEZO1): c.2344G> A (p.Gly782Ser) single nucleotide variant Uncertain significance rs200970763 GRCh38 Chromosome 16, 88733731: 88733731
19 PIEZO1 NM_001142864.4(PIEZO1): c.2423G> A (p.Arg808Gln) single nucleotide variant Uncertain significance rs202103485 GRCh37 Chromosome 16, 88800060: 88800060
20 PIEZO1 NM_001142864.4(PIEZO1): c.2423G> A (p.Arg808Gln) single nucleotide variant Uncertain significance rs202103485 GRCh38 Chromosome 16, 88733652: 88733652
21 PIEZO1 NM_001142864.4(PIEZO1): c.7483_7488dup (p.Glu2496_Glu2497insLeuGlu) duplication Pathogenic rs587776992 GRCh37 Chromosome 16, 88782091: 88782096
22 PIEZO1 NM_001142864.4(PIEZO1): c.7483_7488dup (p.Glu2496_Glu2497insLeuGlu) duplication Pathogenic rs587776992 GRCh38 Chromosome 16, 88715683: 88715688
23 PIEZO1 NM_001142864.4(PIEZO1): c.3107G> A (p.Arg1036His) single nucleotide variant Uncertain significance rs769506340 GRCh38 Chromosome 16, 88731795: 88731795
24 PIEZO1 NM_001142864.4(PIEZO1): c.3107G> A (p.Arg1036His) single nucleotide variant Uncertain significance rs769506340 GRCh37 Chromosome 16, 88798203: 88798203
25 PIEZO1 PIEZO1, E756DEL deletion Pathogenic

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

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