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Bartter disease type 2
Summary
- Synonym
-
- BARTS2
- Bartter syndrome type 2
- Bartter syndrome type 2 antenatal
- hyperprostaglandin E syndrome 2
- hypokalemic alkalosis with hypercalciuria 2 antenatal
- Definition
- A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
- Super Class
- Bartter disease
External Links
- Disease Ontology
- DOID:0110143
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48048 | ATP-sensitive inward rectifier potassium channel 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O88335 | ATP-sensitive inward rectifier potassium channel 1 |
