Prekallikrein deficiency

Preferred Label : Prekallikrein deficiency;

Symbol : PKKD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fletcher factor deficiency; Pkk deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kallikrein B plasma 1 gene (KLKB1, 229000.0001);

Laboratory abnormalities : Prekallikrein deficiency; Prolonged activated partial thromboplastin time (aPTT);

Prefixed ID : #612423;

Details

Origin ID

612423;

UMLS CUI

C0272339;

Currated CISMeF NLP mapping
- Congenital prekallikrein deficiency [ORDO Disease]
- Prekallikrein Deficiency [NCIt concept]
- Prekallikrein deficiency (disorder) [SNOMED CT concept]
- prekallikrein deficiency [SNOMED Notion]
- prekallikrein deficiency [MeSH concept]
- prekallikrein deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Kallikrein b, plasma, 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Prolonged partial thromboplastin time [HPO term]
Not associated HPO term(s)
- Abnormal bleeding [HPO term]
ORDO concept(s)
- Congenital prekallikrein deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital prekallikrein deficiency [ORDO Disease]
- Prekallikrein Deficiency [NCIt concept]
- Prekallikrein deficiency (disorder) [SNOMED CT concept]
- prekallikrein deficiency [MeSH Supplementary Concept]
- prekallikrein deficiency [SNOMED Notion]
- prekallikrein deficiency [MeSH concept]

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