Infantile Bartter syndrome with deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Bartter syndrome type 4 |
| Number of Symptoms | 29 |
| OrphanetNr: | 89938 |
| OMIM Id: |
602522
613090 |
| ICD-10: |
E26.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bartter syndrome
-Rare genetic disease -Rare renal disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0005576) | Tubulointerstitial fibrosis | 32 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0012213) | Decreased glomerular filtration rate | 21 / 7739 | ||||
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(HPO:0005565) | Reduced renal corticomedullary differentiation | 5 / 7739 | ||||
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(HPO:0002914) | Hyperchloriduria | 7 / 7739 | ||||
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(HPO:0003081) | Increased urinary potassium | 7 / 7739 | ||||
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(HPO:0000103) | Polyuria | 60 / 7739 | ||||
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(HPO:0000127) | Renal salt wasting | 21 / 7739 | ||||
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(HPO:0012605) | Hypernatriuria | 6 / 7739 | ||||
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(HPO:0004737) | Global glomerulosclerosis | 3 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0000859) | Hyperaldosteronism | 17 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0001563) | Fetal polyuria | 6 / 7739 | ||||
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(HPO:0001622) | Premature birth | 100 / 7739 | ||||
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(HPO:0001789) | Hydrops fetalis | 63 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004909) | Hypokalemic hypochloremic metabolic alkalosis | 3 / 7739 | ||||
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(HPO:0002900) | Hypokalemia | 45 / 7739 | ||||
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(HPO:0000969) | Edema | 117 / 7739 | ||||
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(HPO:0003113) | Hypochloremia | 7 / 7739 | ||||
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(HPO:0002902) | Hyponatremia | 37 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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