Bartter syndrome, antenatal, type 2

Disease ID:127
Name:Bartter syndrome, antenatal, type 2
Associated with:1 targets
0 immuno targets
0 immuno ligands
Antenatal Bartter syndrome | Bartter disease
Database Links
Disease Ontology: DOID:445
OMIM: 241200
Orphanet: ORPHA93604


Role:  Salt-wasting tubulopathy.
References:  3
Kir1.1 is associated with 23 mutation. Click here for details


No ligand related data available for Bartter syndrome, antenatal, type 2


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1. Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M. (2001) Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int.59 (5): 1803-11. [PMID:11318951]

2. Károlyi L, Konrad M, Köckerling A, Ziegler A, Zimmermann DK, Roth B, Wieg C, Grzeschik K-H, Koch MC, Seyberth HW. (1997) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. Hum. Mol. Genet.6 (1): 17-26. [PMID:9002665]

3. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP. (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat. Genet.14 (2): 152-6. [PMID:8841184]

4. Srivastava S, Li D, Edwards N, Hynes AM, Wood K, Al-Hamed M, Wroe AC, Reaich D, Moochhala SH, Welling PA et al.. (2013) Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity. Physiol Rep1 (6): e00160. [PMID:24400161]