Factors VIII, ix and XI, combined deficiency of

Preferred Label : Factors VIII, ix and XI, combined deficiency of;

CISMeF acronym : FMFD V; MCFD5;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Familial multiple coagulation factor deficiency V; Multiple coagulation factor deficiency V; MCFD5; FMFD V;

Description : Soff et al. (1981) reported 4 families with combined deficiency of coagulation factors VIII, IX and XI. Family 1 had several persons with dislocations, e.g., of patella and hips, and several who had possible hemarthrosis related to trauma. Other probands were referred because of the finding of prolonged partial thromboplastin time (PTT) on preoperative testing. Two generations were affected in 2 families, and males and females had similar procoagulant levels and histories of abnormal hemostasis. No male-to-male transmission was observed. The pathogenesis of FMFD V is unknown. The 3 factors are biochemically and functionally different and the possibility of a common precursor or subunit is highly unlikely. Possibly a common regulator is deficient. Angelopoulos et al. (1964) described combined deficiency of factors;

Inheritance : Autosomal dominant;

Prefixed ID : 134520;

Details

Origin ID

134520;

UMLS CUI

C1851375;

Broader ORDO disease(s)
- Hemophilia [ORDO Disease]
Currated CISMeF NLP mapping
- factors VIII, IX and XI, combined deficiency of [MeSH concept]
- factors VIII, IX and XI, combined deficiency of [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Hemarthroses [HPO term]
- Joint dislocation [HPO term]
- Joint hemorrhage [HPO term]
- Prolonged partial thromboplastin time [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- factors VIII, IX and XI, combined deficiency of [MeSH Supplementary Concept]
- factors VIII, IX and XI, combined deficiency of [MeSH concept]

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