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 protein C anticoagulant pathway (HP:0030780)

..Starting node
..Reduced protein C activity (HP:0005543)

Term ID:

5543

Name:

Reduced protein C activity

Synonym:

Protein C deficiency

Definition:

An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.

Comments:

Reference:

HP:0005543

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced protein S activity (HP:0004855)

Resistance to activated protein C (HP:0012175)

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:0005543	HP:0005543	Reduced protein C activity	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0005543	HP:0005543	Reduced protein C activity	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0005543	HP:0005543	Reduced protein C activity	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0005543	HP:0005543	Reduced protein C activity	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0005543	HP:0005543	Reduced protein C activity	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0005543	HP:0005543	Reduced protein C activity	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0005543	HP:0005543	Reduced protein C activity	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0005543	HP:0005543	Reduced protein C activity	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0005543	HP:0005543	Reduced protein C activity	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0005543	HP:0005543	Reduced protein C activity	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0005543	HP:0005543	Reduced protein C activity	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65

Genes (9) :ALG12 ALG6 ALG8 B4GALT1 DPM1 GGCX MPI NGLY1 PROC

Diseases (11) :ORPHA:79324 ORPHA:79320 ORPHA:79325 ORPHA:79332 OMIM:608799 ORPHA:79322 OMIM:277450 ORPHA:79319 ORPHA:404454 OMIM:612304 OMIM:176860

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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