Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:325 Congenital factor II deficiency

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *

Reduced prothrombin activity HP:0012201

Reduced prothrombin antigen HP:0040250

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Very frequent

Prolonged partial thromboplastin time HP:0003645
Prolonged prothrombin time HP:0008151
Reduced prothrombin activity HP:0012201
Reduced prothrombin antigen HP:0040250

Frequent

Abnormal bleeding HP:0001892
Epistaxis HP:0000421
Intracranial hemorrhage HP:0002170
Joint hemorrhage HP:0005261

Occasional

Abnormal umbilical stump bleeding HP:0011884
Anemia HP:0001903
Cephalohematoma HP:0012541
Excessive bleeding from superficial cuts HP:0030138
Intramuscular hematoma HP:0012233
Menorrhagia HP:0000132
Microscopic hematuria HP:0002907
Oral cavity bleeding HP:0030140
Post-partum hemorrhage HP:0011891
Prolonged bleeding after dental extraction HP:0006298
Prolonged bleeding following circumcision HP:0030137
Prolonged bleeding following procedure HP:0011890

Exclusion criterion *

Arterial thrombosis HP:0004420
Venous thrombosis HP:0004936

* Phenotypic abnormalities noted as « exclusion criterion » are those that are always absent in a particular disease and therefore exclude its diagnosis.

Additional information

Further information

Specialised Social Services

Eurordis directory

Warning

The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.