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Anemia, Hemolytic, Congenital (D000745)
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Hydrops Fetalis (D015160)
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Hyperkalemia (D006947)
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Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)

       Child Nodes:



 Sister Nodes: 
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..expandPseudohyperkalemia Cardiff (C535827)
..expandPseudohyperkalemia, Familial, 2, due to Red Cell Leak (C563785)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3496
Name:Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Definition:
Alternative IDs:OMIM:194380
ParentIDs:MESH:D000745|MESH:D006947|MESH:D015160
TreeNumbers:C13.703.277.060.480/C566369 |C15.378.071.141.150/C566369 |C15.378.295.480/C566369 |C15.378.420.826.100.350/C566369 |C16.300.060.480/C566369 |C16.320.070/C566369 |C16.320.365.826.100.350/C566369 |C18.452.950.396/C566369 |C20.306.480/C566369 |C23.888.277.395/C56636
Synonyms:DEHYDRATED HEREDITARY STOMATOCYTOSIS |DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA |DESICCYTOSIS, HEREDITARY |DHS |DHS1 |PSEUDOHYPERKALEMIA EDINBURGH |PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK |PSH
Slim Mappings:Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Pregnancy complication|Signs and symptoms
Reference: MedGen: C566369
MeSH: C566369
OMIM: 194380;
MSeqDR LSDB:  
Genes: PIEZO1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001081CholelithiasisHP:0040283
3 HP:0005535Exercise-induced hemolysis
4 HP:0003641HemoglobinuriaHP:0040283
5 HP:0012115HepatitisHP:0040283
6 HP:0002240HepatomegalyHP:0040283
7 HP:0008269Increased red cell hemolysis by shear stress
8 HP:0003281Increased serum ferritinHP:0040283
9 HP:0000952JaundiceHP:0040283
10 HP:0000980PallorHP:0040283
11 HP:0001923Reticulocytosis
12 HP:0001744SplenomegalyHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3])9780PIEZO1Pathogenicrs587776992RCV000049237|RCV000485661|RCV000853246; NMedGen:C4551512,OMIM:194380, Orphanet:3202|MedGen:CN517202|168878209088782091CCCTCCAG16:g.88782090_88782091insCTCCAGClinGen:CA211291,OMIM:611184.0006CN517202 not provided;
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)9780PIEZO1Pathogenicrs587776988RCV000049232|RCV000757612; NMedGen:C4551512,OMIM:194380, Orphanet:3202|MedGen:CN517202168878221288782212CT16:g.88782212C>TClinGen:CA211287,UniProtKB:Q92508#VAR_069833,OMIM:611184.0002
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)9780PIEZO1Benign-1RCV001196779; NMedGen:C4551512,OMIM:194380, Orphanet:3202168878328888783288CT16:g.88783288C>T-
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)9780PIEZO1Pathogenicrs587776987RCV000049231; NMedGen:C4551512,OMIM:194380, Orphanet:3202168878329388783293AC16:g.88783293A>CClinGen:CA211286,UniProtKB:Q92508#VAR_069832,OMIM:611184.0001C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)9780PIEZO1Likely pathogenicrs587776991RCV000049236; NMedGen:C4551512,OMIM:194380, Orphanet:3202168878607388786073GA16:g.88786073G>AClinGen:CA211290,UniProtKB:Q92508#VAR_069830,OMIM:611184.0005C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)9780PIEZO1Uncertain significance-1RCV001263246; NMedGen:C4551512,OMIM:194380, Orphanet:3202168878625388786253GA16:g.88786253G>A-
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)9780PIEZO1Pathogenicrs587776989RCV000049233|RCV000224939; NMedGen:C4551512,OMIM:194380, Orphanet:3202|MedGen:CN517202168878658388786583CT16:g.88786583C>TClinGen:CA211288,UniProtKB:Q92508#VAR_069828,OMIM:611184.0003CN517202 not provided;
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)9780PIEZO1Uncertain significance-1RCV001269332; NMedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843168878873188788731GA16:g.88788731G>A-
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)9780PIEZO1Pathogenicrs587776990RCV000049234; NMedGen:C4551512,OMIM:194380, Orphanet:3202168879191388791913CG16:g.88791913C>GClinGen:CA211289,UniProtKB:Q92508#VAR_069826,OMIM:611184.0004C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)9780PIEZO1Likely pathogenic-1RCV001257445; NMedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843168879406988794069TC16:g.88794069T>C-
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)9780PIEZO1Likely pathogenic-1RCV001257446; NMedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843168879811988798119CA16:g.88798119C>A-
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)9780PIEZO1Uncertain significancers769506340RCV000661912|RCV000661913; NMedGen:C4551512,OMIM:194380, Orphanet:3202|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843168879820388798203CT16:g.88798203C>T-
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)9780PIEZO1Uncertain significance-1RCV001262597; NMedGen:C4551512,OMIM:194380, Orphanet:3202168879887488798874GA16:g.88798874G>A-
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)9780PIEZO1Uncertain significance-1RCV001270740; NMedGen:C4551512,OMIM:194380, Orphanet:3202168880043488800434GT16:g.88800434G>T-
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr)9780PIEZO1Pathogenicrs1597457977RCV001029751; NMedGen:C4551512,OMIM:194380, Orphanet:3202168880093988800939CA16:g.88800939C>A-
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