RGD Reference Report - Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. - Rat Genome Database

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Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.

Authors: Black, M E  Hedgire, S S  Camposano, S  Paul, E  Harisinghani, M  Thiele, E A 
Citation: Black ME, etal., Clin Genet. 2012 Dec;82(6):552-7. doi: 10.1111/j.1399-0004.2012.01845.x. Epub 2012 Feb 2.
RGD ID: 21079732
Pubmed: (View Article at PubMed) PMID:22251200
DOI: Full-text: DOI:10.1111/j.1399-0004.2012.01845.x

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Hepatic cysts  (IAGP)
Objects Annotated

Genes (Rattus norvegicus)
Tsc2  (TSC complex subunit 2)

Genes (Mus musculus)
Tsc2  (TSC complex subunit 2)

Genes (Homo sapiens)
TSC2  (TSC complex subunit 2)


Additional Information