PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypertrichosis |
| Phenotype | C0011854|insulin-dependent diabetes |
| Sentences | 3 |
| 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- 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- 24894595 | Objectives: h syndrome and pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid) had been described as two autosomal recessive disorders. |
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