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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Human molecular genetics - 15 Jun 2009

Cliffe Simon T, Kramer Jamie M, Hussain Khalid, Robben Joris H, de Jong Eiko K, de Brouwer Arjan P, Nibbeling Esther, Kamsteeg Erik-Jan, Wong Melanie, Prendiville Julie, James Chela, Padidela Raja, Becknell Charlie, van Bokhoven Hans, Deen Peter M T, Hennekam Raoul C M, Lindeman Robert, Schenck Annette, Roscioli Tony, Buckley Michael F

Abstract excerpt

Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is a recently described autosomal recessive disorder associated with predominantly antibody negative, insulin-dependent diabetes mellitus. In order to identify the genetic basis of PHID and study its relationship...

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PMID: 19336477
DOI: 10.1093/hmg/ddp161

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19336477-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.PMID 19336477Read ↗

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Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.Semantic proximity Read ↗

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