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PedAM

Pediatric Disease Annotations & Medicines




Disease diabetes mellitus, insulin-dependent
Phenotype C0020555|hypertrichosis
Sentences 7
PubMedID- 24894595 Objectives: h syndrome and pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid) had been described as two autosomal recessive disorders.
PubMedID- 22238637 Interestingly, various disorders due to slc29a3 mutations have only recently been documented, including h syndrome (mim 612391), pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid) syndrome (mim 612391), faisalabad histiocytosis (fhc) (mim 602782) and sinus histiocytosis with massive lymphadenopathy (shml), all comprising granulomatous lesions [16], [17], [18], [19], [20], [21], [22], [23] (figure 3c).
PubMedID- 25713533 Several syndromes, including the h syndrome (molho-pessach et al., 2008, 2014; bolze et al., 2012; huber-ruano et al., 2012) and the pigmented hypertrichosis with insulin dependent diabetes (phid) syndrome (spiegel et al., 2010) have been associated with mutations in the slc29a3 gene.
PubMedID- 20140240 Additionally, another study has recently described germline slc29a3 mutations in an autosomal recessive disorder, phid (pigmented hypertrichosis with insulin dependent diabetes mellitus) syndrome, which is characterized by the childhood onset of pigmented hypertrichotic skin lesions associated with a high risk of insulin-dependent diabetes mellitus [11].
PubMedID- 20619369 H syndrome and pigmented hypertrichosis with insulin dependent diabetes (phid) are allelic autosomal recessive syndromes reported in the last year to be caused by mutations in the slc29a3 gene, which encodes the equilibrative nucleoside transporter hent3.
PubMedID- 23530176 Germline mutations in the slc29a3 gene result in a range of recessive, clinically related syndromes: h syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy.
PubMedID- 23795265 Indeed being suspect to pigmented hypertrichosis with insulin dependent diabetes (phid), the slc29a3 [solute carrier family 29 (nucleoside transporter), member 3] gene was also sequenced which did not come up with any disease causing mutation.

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