eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | bartter disease |
| Symptom | C0011053|deafness |
| Sentences | 3 |
| PubMedID- 23148261 | Mutations in both human isoforms (clc-ka and clc-kb; schlingmann et al., 2004) or in bsdn, the gene encoding barttin, cause bartter syndrome (type iv) with additional deafness (birkenhäger et al., 2001). |
| PubMedID- 20805576 | However, simultaneous loss of function of both clc-ka and clc-kb leads to bartter syndrome (type iv) with deafness, similar to the effect of barttin mutations (schlingmann et al., 2004). |
| PubMedID- 22518185 | Sensorineural deafness is associated with bartter syndrome iv. |
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