PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypertrichosis |
| Phenotype | C0011849|diabetes mellitus |
| Sentences | 4 |
| 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- 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- 24894595 | Objectives: h syndrome and pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid) had been described as two autosomal recessive disorders. |
| 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]. |
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