Human Phenotype Ontology

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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

Grandparent Node:
Abnormality of coagulation (HP:0001928)

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

..Starting node
..Abnormality of the protein C anticoagulant pathway (HP:0030780)

Term ID:

30780

Name:

Abnormality of the protein C anticoagulant pathway

Synonym:

Definition:

An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.

Comments:

Reference:

HP:0030780

Genes and Diseases:

Child Nodes:

........

Reduced protein S activity (HP:0004855)

........

Reduced protein C activity (HP:0005543)

........

Resistance to activated protein C (HP:0012175)

Sister Nodes:

Abnormality of prothrombin (HP:0012200)

Abnormality of the common coagulation pathway (HP:0010990)

Abnormality of the extrinsic pathway (HP:0010988)

Abnormality of the intrinsic pathway (HP:0010989)

Abnormality of von Willebrand factor (HP:0012146)

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:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0030780	HP:0030780	Abnormality of the protein C anticoagulant pathway	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0030780	HP:0004855	Reduced protein S activity	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0030780	HP:0005543	Reduced protein C activity	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0030780	HP:0004855	Reduced protein S activity	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0030780	HP:0005543	Reduced protein C activity	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0030780	HP:0005543	Reduced protein C activity	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0030780	HP:0005543	Reduced protein C activity	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0030780	HP:0004855	Reduced protein S activity	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0030780	HP:0004855	Reduced protein S activity	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0030780	HP:0005543	Reduced protein C activity	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0030780	HP:0004855	Reduced protein S activity	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0030780	HP:0005543	Reduced protein C activity	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0030780	HP:0004855	Reduced protein S activity	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0030780	HP:0012175	Resistance to activated protein C	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0030780	HP:0005543	Reduced protein C activity	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0030780	HP:0004855	Reduced protein S activity	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0030780	HP:0005543	Reduced protein C activity	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0030780	HP:0004855	Reduced protein S activity	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0030780	HP:0005543	Reduced protein C activity	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0030780	HP:0005543	Reduced protein C activity	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0030780	HP:0005543	Reduced protein C activity	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0030780	HP:0004855	Reduced protein S activity	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0030780	HP:0004855	Reduced protein S activity	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75

Genes (12) :ALG12 ALG6 ALG8 B4GALT1 DPAGT1 DPM1 F5 GGCX MPI NGLY1 PROC PROS1

Diseases (15) :ORPHA:79324 ORPHA:79320 ORPHA:79325 ORPHA:79332 ORPHA:86309 OMIM:608799 ORPHA:79322 OMIM:188055 OMIM:277450 ORPHA:79319 ORPHA:404454 OMIM:612304 OMIM:176860 OMIM:614514 OMIM:612336

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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