Details of Disease | DrugMAP

General Information of Disease (ID: DISWWXOJ)

Disease Name	Deficiency in anterior pituitary function - variable immunodeficiency syndrome
Synonyms	David syndrome
Disease Hierarchy	DISC4U0P: Non-acquired combined pituitary hormone deficiency DISGAOEI: Immunodeficiency, common variable, 10 DISWWXOJ: Deficiency in anterior pituitary function - variable immunodeficiency syndrome
Disease Identifiers	MONDO ID MONDO_0017407 UMLS CUI C4751122 MedGen ID 1666981 Orphanet ID 293978 SNOMED CT ID 773664005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NFKB2	TTKLNRV	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFKB2	OTS231V7	Supportive	Autosomal dominant	[1]
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References

1	Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9.