BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY |
| Number of Symptoms | 30 |
| OrphanetNr: | |
| OMIM Id: |
210550
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| ICD-10: |
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| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0003076) | Glycosuria | 32 / 7739 | ||||
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(HPO:0002909) | Generalized aminoaciduria | 13 / 7739 | ||||
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(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
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(HPO:0000093) | Proteinuria | 169 / 7739 | ||||
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(HPO:0000124) | Renal tubular dysfunction | 46 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001552) | Barrel-shaped chest | 31 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0000952) | Jaundice | 105 / 7739 | ||||
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(HPO:0006560) | Biliary hyperplasia | 1 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0002908) | Conjugated hyperbilirubinemia | 21 / 7739 | ||||
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(HPO:0001996) | Chronic metabolic acidosis | 3 / 7739 | ||||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(OMIM) | Death at age 4 months | 1 / 7739 | ||||
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(OMIM) | Biliary hyperplasia, extrahepatic and intrahepatic | 1 / 7739 | ||||
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(OMIM) | Defect in polymorphonuclear cell migration and intracellular killing | 1 / 7739 | ||||
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(OMIM) | Bilateral simian creases | 1 / 7739 | ||||
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(OMIM) | Low set | 3 / 7739 | ||||
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(OMIM) | Tubular renal failure | 1 / 7739 | ||||
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(MedDRA:10023129) | Jaundice cholestatic | 3 / 7739 | ||||
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(OMIM) | Distal tubule calcification | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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