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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

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Disease Browser
Parent Node: Thrombasthenia (D013915)
..Starting node ..Glanzmann Thrombasthenia, Autosomal Dominant (C566061)
Child Nodes:
Sister Nodes:
..Glanzmann Thrombasthenia, Autosomal Dominant (C566061)
..Schlegelberger Grote syndrome (C536635)
..Thrombasthenia-Thrombocytopenia, Hereditary (C566060)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4615

Name:

Glanzmann Thrombasthenia, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:187800

ParentIDs:

MESH:D013915

TreeNumbers:

C15.378.100.100.820/C566061 |C15.378.140.810/C566061 |C15.378.463.810/C566061 |C16.320.099.820/C566061

Synonyms:

BDPLT16 |BLEEDING DISORDER, PLATELET-TYPE, 16 |GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT |Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C566061
MeSH: C566061
OMIM: 187800;

Genes: ITGA2B; ITGB3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001903	Anemia
3	HP:0001902	Giant platelets
4	HP:0003540	Impaired platelet aggregation
5	HP:0040185	Macrothrombocytopenia
6	HP:0000967	Petechiae

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_000212.2(ITGB3):c.2231T>C (p.Leu744Pro)	-1	-	Pathogenic	398122374	RCV000043482;	N	MedGen:C1861195,OMIM:187800	17	45384933	45384933	NM_000212.2:c.2231T>C	NP_000203.2:p.Leu744Pro	NC_000017.10:g.45384933T>C	OMIM Allelic Variant:173470.0020	C1861195 187800 Platelet-type bleeding disorder 16
NM_000212.2(ITGB3):c.2245G>C (p.Asp749His)	-1	-	Pathogenic	398122372	RCV000043480;	N	MedGen:C1861195,OMIM:187800	17	45384947	45384947	NM_000212.2:c.2245G>C	NP_000203.2:p.Asp749His	NC_000017.10:g.45384947G>C	OMIM Allelic Variant:173470.0018	C1861195 187800 Platelet-type bleeding disorder 16
NM_000212.2(ITGB3):c.2134+1G>C	3690	ITGB3	Pathogenic	398122373	RCV000043481;	N	MedGen:C1861195,OMIM:187800	17	45380207	45380207	NM_000212.2:c.2134+1G>C		NC_000017.10:g.45380207G>C	OMIM Allelic Variant:173470.0019	C1861195 187800 Platelet-type bleeding disorder 16