Factor XIII, b subunit, deficiency of

Preferred Label : Factor XIII, b subunit, deficiency of;

Type : Phenotype, molecular basis known;

Description : Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the factor XIII beta subunit (F13B, 134580.0001);

Laboratory abnormalities : Patients with factor XIII beta subunit deficiency usually also have decreased levels of plasma factor XIII alpha subunit;

Prefixed ID : #613235;

Details

Origin ID

613235;

UMLS CUI

C2750481;

Automatic exact mappings (from CISMeF team)
- Congenital factor XIII deficiency [ORDO Disease]
- Factor XIII subunit B deficiency [HPO term]
Currated CISMeF NLP mapping
- factor XIII, B subunit, deficiency of [MeSH concept]
- factor XIII, B subunit, deficiency of [MeSH Supplementary Concept]
DO Cross reference
- factor XIII deficiency [DO Concept]
Genes related to phenotype
- Factor XIII, b subunit [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal umbilical stump bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital onset [HPO term]
- Ecchymosis [HPO term]
- Prolonged bleeding after surgery [HPO term]
- Reduced factor XIII activity [HPO term]
ORDO concept(s)
- Congenital factor XIII deficiency [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Factor XIII subunit B deficiency [HPO term]
- factor XIII, B subunit, deficiency of [MeSH Supplementary Concept]
- factor XIII, B subunit, deficiency of [MeSH concept]

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