eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypertrichosis |
| Comorbidity | C0011854|insulin dependent diabetes |
| Sentences | 3 |
| 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. |
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