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 blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormality of coagulation (HP:0001928)

..Starting node
..Prolonged partial thromboplastin time (HP:0003645)

Term ID:

3645

Name:

Prolonged partial thromboplastin time

Synonym:

Abnormal partial thromboplastin time; Delayed thromboplastin generation; Partial thromboplastin time prolonged; Prolonged activated partial thromboplastin time; Prolonged PTT

Definition:

Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.

Comments:

Reference:

HP:0003645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of fibrinolysis (HP:0040224)

Abnormality of the coagulation cascade (HP:0003256)

Hypercoagulability (HP:0100724)

Prolonged whole-blood clotting time (HP:0005542)

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:0003645	HP:0003645	Prolonged partial thromboplastin time	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040281 - Very frequent	28
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040283 - Occasional	303
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040281 - Very frequent	303
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040281 - Very frequent	303
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0003645	HP:0003645	Prolonged partial thromboplastin time	0	VPS33B CL E G H	26276	12712	OMIM:620010			63

Genes (30) :ABCD3 AKR1D1 ALG12 ALG13 ALG2 B4GALT1 DPM1 EFL1 F10 F11 F12 F2 F5 F8 F9 FAH GATA6 GGCX GNE HLA-DQA1 HLA-DQB1 KLKB1 LMAN1 LZTR1 MCFD2 PGM1 PMM2 SLC37A4 SOS1 VPS33B

Diseases (36) :OMIM:616278 ORPHA:79303 ORPHA:79324 OMIM:607143 OMIM:300884 OMIM:607906 ORPHA:79332 OMIM:608799 OMIM:617941 OMIM:227600 ORPHA:329 OMIM:612416 ORPHA:330 OMIM:234000 ORPHA:325 OMIM:613679 OMIM:227400 OMIM:188055 ORPHA:177926 OMIM:306700 ORPHA:169805 ORPHA:169802 OMIM:306900 OMIM:276700 ORPHA:2255 OMIM:277450 ORPHA:3166 OMIM:212750 OMIM:612423 ORPHA:35909 OMIM:616564 OMIM:614921 OMIM:212065 OMIM:619525 OMIM:610733 OMIM:620010

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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