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 the coagulation cascade (HP:0003256)

Parent Node:
Abnormality of the common coagulation pathway (HP:0010990)

..Starting node
..Reduced factor X activity (HP:0008321)

Term ID:

8321

Name:

Reduced factor X activity

Synonym:

Decreased factor x activity; Factor X deficiency

Definition:

Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).

Comments:

Reference:

HP:0008321

Genes and Diseases:

Child Nodes:

........

Factor X activation deficiency (HP:0008354)

Sister Nodes:

Abnormal coagulation factor V activity (HP:0031899)

Abnormality of circulating fibrinogen (HP:0011898)

Decreased level of heparin co-factor II (HP:0040226)

Decreased level of histidine-rich glycoprotein (HP:0040227)

Decreased level of plasminogen (HP:0040228)

Decreased level of thrombomodulin (HP:0040229)

Decreased level of tissue plasminogen activator (HP:0040230)

Increased plasma vitamin K epoxide after vitamin K supplementation (HP:0040239)

Prolonged Russell's viper venom time (HP:0040244)

Reduced alpha-2-antiplasmin activity (HP:0040245)

Reduced antithrombin antigen (HP:0040246)

Reduced factor XIII activity (HP:0008357)

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:0008321	HP:0008321	Reduced factor X activity	0	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0008321	HP:0008321	Reduced factor X activity	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040280 - Obligate	33
HP:0008321	HP:0008321	Reduced factor X activity	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0008321	HP:0008321	Reduced factor X activity	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0008321	HP:0008321	Reduced factor X activity	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0008321	HP:0008321	Reduced factor X activity	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25
HP:0008321	HP:0008354	Factor X activation deficiency	1	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome	.	12

Genes (4) :ANO6 F10 GGCX VKORC1

Diseases (6) :OMIM:262890 ORPHA:328 OMIM:227600 OMIM:610842 OMIM:277450 OMIM:607473

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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