Details of Disease

General Information of Disease (ID: DISJNKN8)

Disease Name Primary immunodeficiency syndrome due to p14 deficiency
Synonyms
immunodeficiency due to defect in Mapbp-interacting Protein; immunodeficiency due to defect in MAPBP-interacting PROTEIN; primary immunodeficiency syndrome with short stature; primary immunodeficiency syndrome due to LAMTOR2 deficiency
Definition Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Disease Hierarchy
DISYKSRF: Genetic disease
DISZ74WG: Constitutional neutropenia
DISJNKN8: Primary immunodeficiency syndrome due to p14 deficiency
Disease Identifiers
MONDO ID
MONDO_0012559
MESH ID
C563663
UMLS CUI
C1835829
OMIM ID
610798
MedGen ID
372135
Orphanet ID
90023

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LAMTOR2 OTHEDISB Supportive Autosomal recessive [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.