Hemophilia b - CISMeF

Preferred Label : Hemophilia b;

Symbol : HEMB;

CISMeF acronym : HEMB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Christmas disease; Factor ix deficiency; F9 deficiency; Plasma thromboplastin component deficiency;

Included titles and symbols : Hemophilia b leyden; Hemophilia b(M);

Description : Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results from deficiency of coagulation factor VIII (F8; 300841). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993). Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM . They identified 14 cases of hemophilia B CRM from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the coagulation factor IX gene (F9, 300746.0001);

Laboratory abnormalities : PT normal; PTT prolonged; Factor IX deficiency; Platelet count normal; Platelet function normal;

Prefixed ID : #306900;

Details

Origin ID

306900;

UMLS CUI

C0008533;

Automatic exact mappings (from CISMeF team)
- Bleeding disorder in hemophilia B carriers [ORDO Disease]
- F9 wt Allele [NCIt concept]
- Factor IX deficiency (disorder) [SNOMED CT concept]
- Mild hemophilia B [ORDO Disease]
- Moderate hemophilia B [ORDO Disease]
- Severe hemophilia B [ORDO Disease]
- coagulation factor IX [ORDO Gene]
- coagulation factor IX [HGNC gene]
- factor xi deficiency [MeSH Descriptor]
Broader ORDO disease(s)
- Hemophilia [ORDO Disease]
Currated CISMeF NLP mapping
- Christmas disease (Factor IX) [MedDRA LLT]
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
- Factor IX deficiency [MedDRA Preferred Term]
- Haemophilia B [ICD-11 Subcategory]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia [PASCAL descriptor]
- Hemophilia [NCIt concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B [NCIt concept]
- Hemophilia B [ORDO Disease]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hereditary factor IX deficiency [ICD-11 Category]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency [ICD-10 category (who)]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia [MedlinePlus Topic]
- hemophilia A [MeSH Descriptor]
- hemophilia B [DO Concept]
- hemophilia B [Disease (Nov.)]
- hemophilia B [Blood Transfusion thesaurus concept]
- hemophilia B [MeSH Descriptor]
- hemophilia B [MeSH concept]
- hemophilia b, nos [SNOMED Notion]
DO Cross reference
- hemophilia B [DO Concept]
Genes related to phenotype
- Coagulation factor ix [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Hemarthroses [HPO term]
- Joint hemorrhage [HPO term]
- Osteoarthritis [HPO term]
- Persistent bleeding after trauma [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged whole-blood clotting time [HPO term]
- Prolonged whole-blood clotting time in severe hemophilia [HPO term]
- Reduced factor IX activity [HPO term]
- X-linked recessive inheritance [HPO term]
Narrower ORDO disease(s)
- Bleeding disorder in hemophilia B carriers [ORDO Disease]
- Mild hemophilia B [ORDO Disease]
- Moderate hemophilia B [ORDO Disease]
- Severe hemophilia B [ORDO Disease]
Not associated HPO term(s)
- Prolonged prothrombin time [HPO term]
ORDO concept(s)
- Bleeding disorder in hemophilia B carriers [ORDO Disease]
- Hemophilia B [ORDO Disease]
- Mild hemophilia B [ORDO Disease]
- Moderate hemophilia B [ORDO Disease]
- Severe hemophilia B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Christmas disease (Factor IX) [MedDRA LLT]
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
- Factor IX deficiency [MedDRA Preferred Term]
- Factor IX deficiency (disorder) [SNOMED CT concept]
- Haemophilia B [ICD-11 Subcategory]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia B [ORDO Disease]
- Hemophilia B [NCIt concept]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency [ICD-11 Category]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia B [MeSH Descriptor]
- hemophilia B [MeSH concept]
- hemophilia B [DO Concept]
- hemophilia B [Disease (Nov.)]
- hemophilia b, nos [SNOMED Notion]

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