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Article

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2004

Laass Martin W, Spiegel Miriam, Jauch Anna, Hahn Gabriele, Rupprecht Edgar, Vogelberg Christian, Bartsch Oliver, Huebner Angela

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominantly inherited multisystemic disease characterized by the development of hamartomas predominantly in brain and kidneys. The TSC2 gene for tuberous sclerosis is localized on chromosome 16p13.3 immediately adjacent to PKD1, the gene for autosomal dominant polycystic kidney disease (ADPKD). A TSC2-PKD1 contiguous gene syndrome caused by chromosomal microdeletions...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15007723
DOI: 10.1007/s00467-004-1442-z

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.PMID 15007723Read ↗

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Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.Semantic proximity Read ↗

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney diseaseSemantic proximity Read ↗

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.Semantic proximity Read ↗

Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.Semantic proximity Read ↗

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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