pseudohypoparathyroidism type 1A
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:characterizedBy |
gptkb:Albright_hereditary_osteodystrophy
hyperphosphatemia hypocalcemia resistance to parathyroid hormone (PTH) |
| gptkbp:firstDescribed |
gptkb:Fuller_Albright
|
| https://www.w3.org/2000/01/rdf-schema#label |
pseudohypoparathyroidism type 1A
|
| gptkbp:ICD-10_code |
E20.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
| gptkbp:OMIM |
103580
|
| gptkbp:otherHormoneResistance |
gptkb:GHRH
TSH gonadotropins |
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:pseudopseudohypoparathyroidism
gptkb:pseudohypoparathyroidism_type_1B |
| gptkbp:symptom |
gptkb:brachydactyly
intellectual disability short stature round face subcutaneous ossifications |
| gptkbp:treatment |
active vitamin D analogs
calcium supplements |
| gptkbp:bfsParent |
gptkb:Pseudohypoparathyroidism_type_1B
|
| gptkbp:bfsLayer |
6
|