Details of Disease | DrugMAP

General Information of Disease (ID: DIS07CAA)

Disease Name	Immunodeficiency 47
Synonyms	immunodeficiency and hepatopathy with or without neurologic features; immunodeficiency 47; IMD47; immunodeficiency 47; immunodeficiency 47, X-linked recessive; immunodeficiency type 47; ATP6AP1 primary immunodeficiency disease; IMD47; primary immunodeficiency disease caused by mutation in ATP6AP1
Definition	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
Disease Hierarchy	DISNGCMN: Inborn error of immunity DIS07CAA: Immunodeficiency 47
Disease Identifiers	MONDO ID MONDO_0010504 UMLS CUI C4310819 OMIM ID 300972 MedGen ID 934786

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP6AP1	TTWDM4U	Strong	Autosomal recessive	[1]
ATP6AP1	TTWDM4U	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6AP1	OTX1K0SJ	Strong	Autosomal recessive	[1]
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References

1	ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.
2	Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31.