Masp2 deficiency

Preferred Label : Masp2 deficiency;

CISMeF acronym : LCAPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lectin complement activation pathway, defect in, 2; LCAPD2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by variation in the mannan-binding lectin serine protease 2 gene (MASP2, 605102.0001);

Laboratory abnormalities : Decreased levels of circulating MASP2;

Prefixed ID : #613791;

Détails

Origin ID

613791;

UMLS CUI

C3151085;

Currated CISMeF NLP mapping
- Immunodeficiency due to MASP-2 deficiency [ORDO Disease]
- Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with MASP-2 deficiency [ICD-11 More detail]
- MASP2 deficiency [MeSH concept]
- MASP2 deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Mannan-binding lectin serine protease 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Complement deficiency [HPO term]
- Recurrent pneumonia [HPO term]
- Systemic lupus erythematosus [HPO term]
- Ulcerative colitis [HPO term]
ORDO concept(s)
- Immunodeficiency due to MASP-2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to MASP-2 deficiency [ORDO Disease]
- Immunodeficiency with MASP-2 deficiency [ICD-11 More detail]
- MASP2 deficiency [MeSH Supplementary Concept]
- MASP2 deficiency [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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