Details of Disease

General Information of Disease (ID: DISV9S4X)

Disease Name Bartter disease type 1
Synonyms
Bartter syndrome antenatal type 1; antenatal Bartter syndrome; hypokalemic alkalosis with hypercalciuria antenatal 1; hypokalemic alkalosis with hypercalciuria 1, antenatal; antenatal Bartter syndrome type 1; Bartter syndrome, type 1, antenatal; hypokalemic alkalosis with hypercalciuria, antenatal, 1; Bartter syndrome, antenatal, type 1; hyperprostaglandin E syndrome; Bartter syndrome, furosemide-amiloride type; Bartter syndrome, furosemide type; Bartter syndrome, type 1; Bartter syndrome type 1; SLC12A1 Bartter syndrome; hyperprostaglandin E syndrome 1; Bartter syndrome type 1 antenatal; hypokalemic alkalosis with hypercalciuria 1 antenatal; BARTS1; Bartter syndrome caused by mutation in SLC12A1; Bartter disease type 1
Disease Hierarchy
DIS7D44B: Bartter syndrome
DISV9S4X: Bartter disease type 1
Disease Identifiers
MONDO ID
MONDO_0100344
MESH ID
C537652
UMLS CUI
C1866495
OMIM ID
601678
MedGen ID
355727
Orphanet ID
620217
SNOMED CT ID
700107006

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
KCNJ1 TTJ13ST Strong GermlineCausalMutation [1]
SLC12A1 TTS087L Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC12A1 DTO1UQY Strong Autosomal recessive [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAGED2 OTMEWNSE Strong GermlineCausalMutation [4]
SLC12A1 OT6YSX0G Strong Autosomal recessive [3]
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References

1 Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Pediatr Int. 2013 Jun;55(3):371-3. doi: 10.1111/j.1442-200X.2012.03716.x.
2 A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.Bone. 2017 Apr;97:121-125. doi: 10.1016/j.bone.2017.01.011. Epub 2017 Jan 14.
3 Uncompensated polyuria in a mouse model of Bartter's syndrome. Proc Natl Acad Sci U S A. 2000 May 9;97(10):5434-9. doi: 10.1073/pnas.090091297.
4 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.