Table 1_Genotype-phenotype correlations in EPCAM-associated congenital tufting enteropathy

150 molecularly confirmed cases of Congenital Tufting Enteropathy were analyzed to assess the impact of EPCAM gene variants on disease severity. The dataset, created by Liqian Zhao and last updated in May 2026, presents a systematic review and case report, finding a significant association between truncating variants and dependency on total parenteral nutrition. Results suggest a potential for early risk stratification for nutritional management in this rare autosomal-recessive enteropathy.

Use Cases

• Assessing the association between EPCAM variant types and clinical outcomes based on the reported odds ratios.
• Investigating geographic enrichment of specific variant types, such as truncating variants in the Eastern Mediterranean Region.
• Supporting risk stratification for intestinal failure severity in Congenital Tufting Enteropathy based on genetic findings.

Strengths

• Includes a pooled cohort of 150 molecularly confirmed cases, providing a basis for statistical analysis.
• Reports specific statistical findings, including an odds ratio of 2.37 for TPN dependency associated with truncating variants.
• Dataset is licensed under CC-BY-4.0, allowing for open sharing and reuse.

Limitations

• Row count is unknown, which may limit suitability assessment for certain analyses.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small at 25.3 KB, indicating a limited scope focused on a specific review.

Provenance

Source

figshare, authored by Liqian Zhao.

Collection Method

Systematic review of previously published molecularly confirmed cases and a reported infant case.

Freshness

Last updated 2026-05-21 05:42:13; freshness should be verified.

Geography

Cases likely have a global distribution, with noted enrichment in the Eastern Mediterranean Region.