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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

Disease Browser
Parent Node: Blood Coagulation Disorders (D001778)
Parent Node: Hemorrhagic Disorders (D006474)
Parent Node: Thrombocytosis (D013922)
..Starting node ..Thrombocythemia, Essential (D013920)
Child Nodes:
Sister Nodes:
..Thrombocythemia, Essential (D013920)
..THROMBOCYTHEMIA, X-LINKED (OMIM:300331)
..Thrombocytosis, Benign Familial Microcytic (C566596)
..Thrombocytosis, Familial X-Linked (C564532)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10987

Name:

Thrombocythemia, Essential

Definition:

A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.

Alternative IDs:

OMIM:187950

ParentIDs:

MESH:D001778|MESH:D006474|MESH:D013922

TreeNumbers:

C15.378.100.832 |C15.378.140.860.800 |C15.378.190.636.860.800 |C15.378.463.825

Synonyms:

Slim Mappings:

Blood disease

Reference:

MedGen: D013920
MeSH: D013920
OMIM: 187950;

Genes: CALR; SH2B3; THPO;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0001063	Acrocyanosis
4	HP:0000822	Hypertension
5	HP:0003540	Impaired platelet aggregation
6	HP:0005547	Myeloproliferative disorder
7	HP:0001428	Somatic mutation
8	HP:0001744	Splenomegaly
9	HP:0001894	Thrombocytosis

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
NC_000014.9:g.95696766_96390792dup694027	-1	-	Likely pathogenic	-1	RCV000190403; RCV000190405; RCV000190404; RCV000190406;	N	MedGen:C0001815,OMIM:254450; MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; MedGen:C0040028,OMIM:187950,ORPHA:3318	14	96163103	96857129	-	-		-	C0023467 601626 Acute myeloid leukemia; C0040028 187950 Essential thrombocythemia; C0001815 254450 Myelofibrosis
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)	811	CALR	Pathogenic	-1	RCV000083257; RCV000083256;	N	MedGen:C0001815,OMIM:254450; MedGen:C0040028,OMIM:187950,ORPHA:3318	19	13054565	13054616	NM_004343.3:c.1092_1143del52	NP_004334.1:p.Leu367Thrfs		OMIM Allelic Variant:109091.0001,dbVar:nssv3761626,dbVar:nsv1067850	C0040028 187950 Essential thrombocythemia; C0001815 254450 Myelofibrosis
NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln)	10019	SH2B3	Pathogenic	202080221	RCV000023398;	N	MedGen:C0040028,OMIM:187950,ORPHA:3318	12	111856571	111856571	NM_005475.2:c.622G>C	NP_005466.1:p.Glu208Gln	NC_000012.11:g.111856571G>C,NC_000012.11:g.111856571G>T	OMIM Allelic Variant:605093.0002	C0040028 187950 Essential thrombocythemia