Alpha-2-plasmin inhibitor deficiency

Preferred Label : Alpha-2-plasmin inhibitor deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antiplasmin deficiency; Plasmin inhibitor deficiency;

Description : Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001).;

Inheritance : Autosomal recessive;

Prefixed ID : #262850;

Details

Origin ID

262850;

UMLS CUI

C2752081;

Automatic exact mappings (from CISMeF team)
- Congenital alpha-2-antiplasmin deficiency (disorder) [SNOMED CT concept]
- Congenital alpha2-antiplasmin deficiency [ORDO Disease]
- anti-plasmin deficiency, congenital [MeSH Supplementary Concept]
- antiplasmin deficiency [MeSH concept]
Currated CISMeF NLP mapping
- alpha-2-plasmin inhibitor deficiency [DO Concept]
DO Cross reference
- alpha-2-plasmin inhibitor deficiency [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade f, member 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Hemothorax [HPO term]
- Joint hemorrhage [HPO term]
- Persistent bleeding after trauma [HPO term]
- Spontaneous joint hemorrhage [HPO term]
ORDO concept(s)
- Congenital alpha2-antiplasmin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- alpha-2-plasmin inhibitor deficiency [DO Concept]
- antiplasmin deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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