Factor VIII deficiency

Preferred Label : Factor VIII deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Autosomal hemophilia a;

Description : Hensen et al. (1965) described a family in which 8 persons in 4 generations in an autosomal dominant pattern had factor VIII deficiency, normal bleeding times, and lack of factor VIII elevation after infusion of hemophilic plasma. Veltkamp et al. (1968) confirmed these findings and found that no rise of factor VIII occurred in a boy or a woman with hemophilia A when transfused with plasma from a girl in Hensen's family. In a restudy of Hensen's family, Veltkamp and Van Tilburg (1974) found that a member of the family showed de novo synthesis of factor VIII after transfusion with either normal or hemophilic cryoprecipitate, a finding consistent with von Willebrand disease. The authors concluded that 'autosomal hemophilia' is merely a variant of von Willebrand disease. Graham et al. (1975) described a kindred in which hemophilia A, in every way typical, was observed in grandmother, mother and daughter. Factor VIII values were 2 to 4%. Unusual lyonization in females heterozygous for the X-linked disorder was rejected on probabilistic grounds. A previously unrecognized mutation at the von Willebrand locus was considered. Dominant mutation at a fourth (and previously unknown) locus involved in factor VIII synthesis and control was considered possible. Autosomal recessive transmission of hemophilia A is observed with some mutations in the von Willebrand factor gene (e.g., 193400.0011), which result in defective binding of factor VIII; this has been referred to as the Normandy type of hemophilia A. *FIELD* RF 1. Graham, J. B.; Barrow, E. S.; Roberts, H. R.; Webster, W. P.; Blatt, P. M.; Buchanan, P.; Cederbaum, A. I.; Allain, J. P.; Barrett, D. A.; Gralnick, H. R.: Dominant inheritance of hemophilia A in three generations of women. Blood 46: 175-188, 1975. 2. Hensen, A.; Mattern, M. J.; Loeliger, E. A.: Haemophilia A with apparently autosomal dominant inheritance: evidence for a second autosomal locus involved in factor VIII production. Thromb. Diath. Haemorrh. 14: 341-345, 1965. 3. Veltkamp, J. J.; Taconis, W. K.; Loeliger, E. A.: Autosomal factor;

Inheritance : Autosomal dominant; ? von Willebrand disease variant;

Prefixed ID : 134500;

Details

Origin ID

134500;

UMLS CUI

C3494187;

Automatic exact mappings (from CISMeF team)
- autosomal hemophilia A [MeSH concept]
- autosomal hemophilia A [DO Concept]
- factor VIII deficiency [DO Concept]
Broader ORDO disease(s)
- Hemophilia [ORDO Disease]
Currated CISMeF NLP mapping
- Factor VII Deficiency [NCIt concept]
- Factor VII deficiency [MedDRA Preferred Term]
- Factor VII deficiency (disorder) [SNOMED CT concept]
- Factor VIII deficiency [MedDRA Preferred Term]
- Factor VIII deficiency (disorder) [SNOMED CT concept]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [ICD-11 Subcategory]
- Haemophilia A [MedDRA LLT]
- Haemophilia NOS [MedDRA LLT]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia [NCIt concept]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia A [NCIt concept]
- Hemophilia A [ORDO Disease]
- Hemophilia A [MedDRA LLT]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor VII activity [HPO term]
- Reduced factor VIII activity [HPO term]
- factor VII deficiency [MeSH concept]
- factor VIII deficiency [MeSH concept]
- factor vii deficiency [MeSH Descriptor]
- factor vii deficiency, nos [SNOMED Notion]
- hemophilia [MedlinePlus Topic]
- hemophilia A [Blood Transfusion thesaurus concept]
- hemophilia A [MeSH Descriptor]
- hemophilia A [MeSH concept]
- hemophilia a, nos [SNOMED Notion]
- hemophilia, nos [SNOMED Notion]
DO Cross reference
- autosomal hemophilia A [DO Concept]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Reduced factor VIII activity [HPO term]
See also inter- (CISMeF)
- blood clotting factor vii deficiency [Disease (Nov.)]
- hemophilia A [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor VIII deficiency [MedDRA Preferred Term]
- Factor VIII deficiency (disorder) [SNOMED CT concept]
- Hereditary factor VIII deficiency [ICD-10 category]
- factor VIII deficiency [MeSH concept]
Validated automatic mappings to NTBT
- hemophilia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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