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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: Hemorrhagic Disorders (D006474)
..Starting node ..Anti-plasmin deficiency, congenital (C537777)
Child Nodes:
Sister Nodes:
..Afibrinogenemia (D000347) 3
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Anti-plasmin deficiency, congenital (C537777)
..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
..Bernard-Soulier Syndrome (D001606) 5
..Disseminated Intravascular Coagulation (D004211)
..Factor V Deficiency (D005166) 4
..Factor VII Deficiency (D005168)
..Factor X Deficiency (D005171)
..Factor XI Deficiency (D005173)
..Factor XII Deficiency (D005175)
..Factor XIII Deficiency (D005177) 2
..Hemophilia A (D006467) 5
..Hemophilia B (D002836)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hemostatic Disorders (D020141) 48
..Hypoprothrombinemias (D007020) 2
..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
..Platelet Storage Pool Deficiency (D010981) 5
..Purpura, Thrombocytopenic, Idiopathic (D016553)
..Thrombasthenia (D013915) 3
..Thrombocythemia, Essential (D013920)
..Vitamin K Deficiency (D014813) 1
..von Willebrand Diseases (D014842) 6
..Waterhouse-Friderichsen Syndrome (D014884) 1
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

760

Name:

Anti-plasmin deficiency, congenital

Definition:

Alternative IDs:

OMIM:262850

ParentIDs:

MESH:D006474

TreeNumbers:

C15.378.463/C537777

Synonyms:

Alpha-2-plasmin inhibitor deficiency |Antiplasmin Deficiency |Antiplasmin deficiency, congenital |Plasmin Inhibitor Deficiency

Slim Mappings:

Blood disease

Reference:

MedGen: C537777
MeSH: C537777
OMIM: 262850;

Genes: SERPINF2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000978	Bruising susceptibility
3	HP:0012151	Hemothorax
4	HP:0005261	Joint hemorrhage
5	HP:0001934	Persistent bleeding after trauma

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	Disease_hgmd
NM_000934.3(SERPINF2):c.526_528delGAA (p.Glu176del)	5345	SERPINF2	Pathogenic	121965061	RCV000000299;	N	MedGen:C2752081,OMIM:262850	17	1650617	1650619	NM_000934.3:c.526_528delGAA	NP_000925.2:p.Glu176del	NC_000017.10:g.1650617_1650619delGAA	OMIM Allelic Variant:613168.0002	C2752081 262850 Anti-plasmin deficiency, congenital
NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met)	5345	SERPINF2	Pathogenic	121965062	RCV000000300;	N	MedGen:C2752081,OMIM:262850	17	1657583	1657583	NM_000934.3:c.1231G>A	NP_000925.2:p.Val411Met	NC_000017.10:g.1657583G>A	OMIM Allelic Variant:613168.0003	C2752081 262850 Anti-plasmin deficiency, congenital