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 XI activity (HP:0001929)

Term ID:

1929

Name:

Reduced factor XI activity

Synonym:

Factor XI deficiency; Low factor XI activity

Definition:

Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.

Comments:

Reference:

HP:0001929

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 XII activity (HP:0004841)

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:0001929	HP:0001929	Reduced factor XI activity	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001929	HP:0001929	Reduced factor XI activity	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001929	HP:0001929	Reduced factor XI activity	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001929	HP:0001929	Reduced factor XI activity	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001929	HP:0001929	Reduced factor XI activity	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001929	HP:0001929	Reduced factor XI activity	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001929	HP:0001929	Reduced factor XI activity	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0001929	HP:0001929	Reduced factor XI activity	0	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0001929	HP:0001929	Reduced factor XI activity	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001929	HP:0001929	Reduced factor XI activity	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001929	HP:0001929	Reduced factor XI activity	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001929	HP:0001929	Reduced factor XI activity	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001929	HP:0001929	Reduced factor XI activity	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001929	HP:0001929	Reduced factor XI activity	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001929	HP:0001929	Reduced factor XI activity	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001929	HP:0001929	Reduced factor XI activity	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001929	HP:0001929	Reduced factor XI activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001929	HP:0001929	Reduced factor XI activity	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315

Genes (12) :ALG12 ALG2 ALG6 ALG8 F11 LZTR1 MGAT2 MPI NGLY1 PMM2 SLC37A4 SOS1

Diseases (18) :ORPHA:79324 OMIM:607906 ORPHA:79320 OMIM:603147 ORPHA:79325 OMIM:608104 ORPHA:329 OMIM:612416 OMIM:616564 OMIM:212066 ORPHA:79329 OMIM:602579 ORPHA:79319 ORPHA:404454 OMIM:212065 ORPHA:79318 OMIM:619525 OMIM:610733

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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