MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Anemia, Hemolytic, Congenital (D000745)
Parent Node: Hydrops Fetalis (D015160)
Parent Node: Hyperkalemia (D006947)
..Starting node ..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
Child Nodes:
Sister Nodes:
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..Pseudohyperkalemia Cardiff (C535827)
..Pseudohyperkalemia, 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:

Slim Mappings:

Reference:

MedGen: C566369
MeSH: C566369
OMIM: 194380;
MSeqDR :
Genes: PIEZO1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001081	Cholelithiasis	HP:0040283
3	HP:0005535	Exercise-induced hemolysis
4	HP:0003641	Hemoglobinuria	HP:0040283
5	HP:0012115	Hepatitis	HP:0040283
6	HP:0002240	Hepatomegaly	HP:0040283
7	HP:0008269	Increased red cell hemolysis by shear stress
8	HP:0003281	Increased serum ferritin	HP:0040283
9	HP:0000952	Jaundice	HP:0040283
10	HP:0000980	Pallor	HP:0040283
11	HP:0001923	Reticulocytosis
12	HP:0001744	Splenomegaly	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3])	9780	PIEZO1	Pathogenic	rs587776992	RCV000049237\|RCV000485661\|RCV000853246;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202\|MedGen:CN517202\|	16	88782090	88782091	C	CCTCCAG	16:g.88782090_88782091insCTCCAG	ClinGen:CA211291,OMIM:611184.0006	CN517202 not provided;
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	9780	PIEZO1	Pathogenic	rs587776988	RCV000049232\|RCV000757612;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202\|MedGen:CN517202	16	88782212	88782212	C	T	16:g.88782212C>T	ClinGen:CA211287,UniProtKB:Q92508#VAR_069833,OMIM:611184.0002
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)	9780	PIEZO1	Benign	-1	RCV001196779;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88783288	88783288	C	T	16:g.88783288C>T	-
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)	9780	PIEZO1	Pathogenic	rs587776987	RCV000049231;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88783293	88783293	A	C	16:g.88783293A>C	ClinGen:CA211286,UniProtKB:Q92508#VAR_069832,OMIM:611184.0001	C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	9780	PIEZO1	Likely pathogenic	rs587776991	RCV000049236;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88786073	88786073	G	A	16:g.88786073G>A	ClinGen:CA211290,UniProtKB:Q92508#VAR_069830,OMIM:611184.0005	C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)	9780	PIEZO1	Uncertain significance	-1	RCV001263246;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88786253	88786253	G	A	16:g.88786253G>A	-
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)	9780	PIEZO1	Pathogenic	rs587776989	RCV000049233\|RCV000224939;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202\|MedGen:CN517202	16	88786583	88786583	C	T	16:g.88786583C>T	ClinGen:CA211288,UniProtKB:Q92508#VAR_069828,OMIM:611184.0003	CN517202 not provided;
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)	9780	PIEZO1	Uncertain significance	-1	RCV001269332;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843	16	88788731	88788731	G	A	16:g.88788731G>A	-
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)	9780	PIEZO1	Pathogenic	rs587776990	RCV000049234;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88791913	88791913	C	G	16:g.88791913C>G	ClinGen:CA211289,UniProtKB:Q92508#VAR_069826,OMIM:611184.0004	C0272051 194380 Xerocytosis;
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)	9780	PIEZO1	Likely pathogenic	-1	RCV001257445;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843	16	88794069	88794069	T	C	16:g.88794069T>C	-
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)	9780	PIEZO1	Likely pathogenic	-1	RCV001257446;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202; MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843	16	88798119	88798119	C	A	16:g.88798119C>A	-
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)	9780	PIEZO1	Uncertain significance	rs769506340	RCV000661912\|RCV000661913;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202\|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843	16	88798203	88798203	C	T	16:g.88798203C>T	-
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)	9780	PIEZO1	Uncertain significance	-1	RCV001262597;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88798874	88798874	G	A	16:g.88798874G>A	-
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)	9780	PIEZO1	Uncertain significance	-1	RCV001270740;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88800434	88800434	G	T	16:g.88800434G>T	-
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr)	9780	PIEZO1	Pathogenic	rs1597457977	RCV001029751;	N	MedGen:C4551512,OMIM:194380, Orphanet:3202	16	88800939	88800939	C	A	16:g.88800939C>A	-

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