Details of Disease

General Information of Disease (ID: DISX9RPI)

Disease Name Bartter disease type 5
Synonyms Bartter syndrome, type 5, antenatal, transient; Bartter syndrome, type 5, antenatal, transient, X-linked recessive; Bartter syndrome caused by mutation in MAGED2; BARTS5; MAGED2 Bartter syndrome
Definition Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.
Disease Hierarchy
DIS7D44B: Bartter syndrome
DISX9RPI: Bartter disease type 5
Disease Identifiers
MONDO ID
MONDO_0010503
UMLS CUI
C4310820
OMIM ID
300971
MedGen ID
934787
Orphanet ID
570371

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
MAGED2 OTMEWNSE Strong X-linked [1]
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References

1 Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.