Immunodeficiency due to defect in mapbp-interacting protein

Preferred Label : Immunodeficiency due to defect in mapbp-interacting protein;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene (LAMTOR2, 610389.0001);

Prefixed ID : #610798;

Details

Origin ID

610798;

UMLS CUI

C1835829;

Currated CISMeF NLP mapping
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency [ORDO Disease]
- Primary immunodeficiency syndrome due to p14 deficiency (disorder) [SNOMED CT concept]
- immunodeficiency due to defect in MAPBP-Interacting protein [MeSH concept]
- immunodeficiency due to defect in MAPBP-Interacting protein [MeSH Supplementary Concept]
Genes related to phenotype
- Late endosomal/lysosomal adaptor, mapk and mtor activator 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Decreased circulating total IgM [HPO term]
- Hypopigmentation of the skin [HPO term]
- Immunodeficiency [HPO term]
- Neutropenia [HPO term]
- Recurrent bronchopulmonary infections [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency [ORDO Disease]
- immunodeficiency due to defect in MAPBP-Interacting protein [MeSH Supplementary Concept]
- immunodeficiency due to defect in MAPBP-Interacting protein [MeSH concept]

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