Details of Disease | DrugMAP

General Information of Disease (ID: DIS0HXIU)

Disease Name	Nephrotic syndrome, type 22
Synonyms	nephrotic syndrome, type 22; NPHS22
Disease Hierarchy	DISADF8G: Familial nephrotic syndrome DIS0HXIU: Nephrotic syndrome, type 22
Disease Identifiers	MONDO ID MONDO_0030895 UMLS CUI C5436909 OMIM ID 619155 MedGen ID 1745920

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
NOS1AP	OTDFOBRU	Limited	Autosomal recessive	[1]
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References

1	Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan.