CIPA Case Report: Clinical and Genetic Data for an Infant Diagnosis

A single clinical case report details the diagnosis of an 8-month-old female infant with Congenital Insensitivity to Pain with Anhidrosis (CIPA). The report, authored by Ziqing Tang and shared under a CC-BY-4.0 license, includes dynamic clinical monitoring, physical exam findings, and genetic sequencing results identifying compound heterozygous variants in the NTRK1 gene. It was last updated on 2026-05-20.

Use Cases

• Training NLP models for clinical text extraction based on detailed case report narratives.
• Studying genotype-phenotype correlations in rare diseases based on the described NTRK1 gene variants.
• Developing differential diagnosis support tools based on the clinical features of refractory fever and anhidrosis.

Strengths

• Includes specific genetic findings: compound heterozygous variants (c.851-33T>A and a large deletion) in the NTRK1 gene.
• Provides detailed clinical observations, including environment-dependent body temperature and painless injuries.
• Shared under a permissive CC-BY-4.0 license, facilitating reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report (1.6 MB), representing a very small sample size.

Provenance

Source

Ziqing Tang via figshare

Collection Method

Clinical case documentation and genetic sequencing.

Freshness

Last updated 2026-05-20 05:44:25; freshness should be verified.