Benign recurrent intrahepatic cholestasis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BRIC Summerskill-Walshe-Tygstrup syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 65682 |
| OMIM Id: |
243300
605479 |
| ICD-10: |
K83.1 |
| UMLs: |
C0149841 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
31155007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of bilirubin metabolism and excretion
-Rare genetic disease Familial intrahepatic cholestasis -Rare genetic disease -Rare hepatic disease |
Symptom Information:
|
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(HPO:0012086) | Abnormal urinary color | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001406) | Intrahepatic cholestasis | 16 / 7739 | ||||
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(HPO:0001394) | Cirrhosis | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0011985) | Acholic stools | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001046) | Intermittent jaundice | 3 / 7739 | ||||
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(HPO:0002896) | Neoplasm of the liver | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0002039) | Anorexia | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0012437) | Abnormal gallbladder morphology | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0001733) | Pancreatitis | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0002613) | Biliary cirrhosis | 11 / 7739 | ||||
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(HPO:0002024) | Malabsorption | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0000989) | Pruritus | Very frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0002908) | Conjugated hyperbilirubinemia | 21 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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