Human Phenotype Ontology

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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

Grandparent Node:
Abnormality of the coagulation cascade (HP:0003256)

Parent Node:
Abnormality of the intrinsic pathway (HP:0010989)

..Starting node
..Reduced factor XII activity (HP:0004841)

Term ID:

4841

Name:

Reduced factor XII activity

Synonym:

Factor XII deficiency; Hageman factor deficiency

Definition:

Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.

Comments:

Reference:

HP:0004841

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal factor VIII activity (HP:0030976)

Reduced antithrombin III activity (HP:0001976)

Reduced factor IX activity (HP:0011858)

Reduced factor XI activity (HP:0001929)

Reduced kininogen activity (HP:0005527)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004841	HP:0004841	Reduced factor XII activity	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0004841	HP:0004841	Reduced factor XII activity	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040281 - Very frequent	28
HP:0004841	HP:0004841	Reduced factor XII activity	0	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0004841	HP:0004841	Reduced factor XII activity	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0004841	HP:0004841	Reduced factor XII activity	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0004841	HP:0004841	Reduced factor XII activity	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0004841	HP:0004841	Reduced factor XII activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110

Genes (6) :BRAF F12 MAP2K1 MGAT2 PTPN11 SLC37A4

Diseases (5) :OMIM:163950 ORPHA:330 OMIM:234000 OMIM:212066 OMIM:619525

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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