eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pseudohypoparathyroidism |
| Comorbidity | C0033806|albright hereditary osteodystrophy |
| Sentences | 4 |
| PubMedID- 25802881 | Maternally inherited inactivating gnas mutations are the most common cause of parathyroid hormone (pth) resistance and albright hereditary osteodystrophy (aho) leading to pseudohypoparathyroidism type ia (phpia) due to gsalpha deficiency. |
| PubMedID- 20738794 | albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the gnas gene. |
| PubMedID- 24785890 | A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type ib using a methylation-specific multiplex ligation-dependent probe amplification assay. |
| PubMedID- 23617958 | After a roux-en-y gastric bypass, patients with albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism need long-term follow-up on nutritional and metabolic issues. |
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