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GTR Home > Conditions/Phenotypes > Primary immunodeficiency syndrome due to p14 deficiency

Primary immunodeficiency syndrome due to p14 deficiency

Synonyms
Immunodeficiency due to defect in mapbp-interacting protein
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections. [from ORDO]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ENDAP, HSPC003, MAPBPIP, MAPKSP1AP, ROBLD3, Ragulator2, p14, LAMTOR2
    Summary: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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