Pseudohypoparathyroidism type 1B
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
parathyroid hormone signaling
|
| gptkbp:alsoKnownAs |
gptkb:PHP1B
|
| gptkbp:causedBy |
abnormal methylation at GNAS locus
|
| gptkbp:characterizedBy |
hyperphosphatemia
hypocalcemia resistance to parathyroid hormone |
| gptkbp:diagnosedBy |
genetic testing
biochemical testing |
| gptkbp:firstDescribed |
1980s
|
| gptkbp:hasNo |
gptkb:Albright_hereditary_osteodystrophy
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pseudohypoparathyroidism type 1B
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:pseudohypoparathyroidism_type_1A
gptkb:pseudopseudohypoparathyroidism |
| gptkbp:treatment |
active vitamin D analogs
calcium supplements |
| gptkbp:bfsParent |
gptkb:PHB
|
| gptkbp:bfsLayer |
5
|