Familial hypercholanemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FHCA Hereditary hypercholanemia |
| Number of Symptoms | 7 |
| OrphanetNr: | 238475 |
| OMIM Id: |
607748
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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: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bile acid synthesis defect with cholestasis and malabsorption
-Rare genetic disease -Rare hepatic disease Metabolic liver disease -Rare genetic disease -Rare hepatic disease |
Symptom Information:
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(HPO:0002748) | Rickets | 41 / 7739 | ||||
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(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000989) | Pruritus | 111 / 7739 | ||||
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(HPO:0011892) | Vitamin K deficiency | 4 / 7739 | ||||
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(HPO:0012202) | Increased serum bile acid concentration | 2 / 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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Additional Information:
| Clinical Description OMIM |
Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption (Morton et al., 2000; Shneider et al., 1997). Carlton et al. (2003) identified 17 individuals with familial hypercholanemia in 12 families of Lancaster County ... |
| Molecular genetics OMIM |
By whole-genome screen, Carlton et al. (2003) identified a chromosomal region, 9q12-q13, shared identically by descent (IBD) on 6 of 10 chromosomes of affected individuals included in the initial analysis. The gene encoding tight junction protein-2 (TJP2; 607709) ... |