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Article

Multi-system disorder syndromes associated with cystinuria type I.

Current molecular medicine - 1 Sept 2008

Martens Kevin, Jaeken Jaak, Matthijs Gert, Creemers John W M

Abstract excerpt

Cystinuria type I is an autosomal recessive disorder with an exclusively renal phenotype caused by inactivating mutations in SLC3A1. Recently 3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS. Genetic analysis indicated that these are recessive contiguous gene deletion syndromes which differ in the...

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Identifiers

PMID: 18781961
DOI: 10.2174/156652408785747997

Genes

PREPL

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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.

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