Factor XIII, a subunit, deficiency of

Preferred Label : Factor XIII, a 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 alpha subunit (F13A1, 134570.0001);

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

Prefixed ID : #613225;

Détails

Origin ID

613225;

UMLS CUI

C2750514;

Automatic exact mappings (from CISMeF team)
- Congenital factor XIII deficiency [ORDO Disease]
- Factor XIII subunit A deficiency [HPO term]
Currated CISMeF NLP mapping
- factor xiii, A subunit, deficiency of [MeSH concept]
- factor xiii, A subunit, deficiency of [MeSH Supplementary Concept]
DO Cross reference
- factor XIII deficiency [DO Concept]
Genes related to phenotype
- Factor XIII, a1 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]
- Epistaxis [HPO term]
- Factor XIII subunit A deficiency [HPO term]
- Gingival bleeding [HPO term]
- Hemarthroses [HPO term]
- Intracranial hemorrhage [HPO term]
- Joint hemorrhage [HPO term]
- Neonatal onset [HPO term]
- Persistent bleeding after trauma [HPO term]
- Reduced factor XIII activity [HPO term]
- Spontaneous hematomas [HPO term]
ORDO concept(s)
- Congenital factor XIII deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor XIII subunit A deficiency [HPO term]
- Hereditary factor XIII A subunit deficiency (disorder) [SNOMED CT concept]
- factor xiii, A subunit, deficiency of [MeSH Supplementary Concept]
- factor xiii, A subunit, deficiency of [MeSH concept]

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