pseudohypoparathyroidism type Ia

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects endocrine system
gptkbp:alsoKnownAs PHP Ia
gptkbp:associatedWith GHRH resistance
TSH resistance
gonadotropin resistance
gptkbp:category rare disease
metabolic disorder
gptkbp:characterizedBy gptkb:Albright_hereditary_osteodystrophy
gptkb:brachydactyly
short stature
round face
hyperphosphatemia
hypocalcemia
resistance to parathyroid hormone
subcutaneous ossifications
gptkbp:firstDescribed gptkb:Fuller_Albright
https://www.w3.org/2000/01/rdf-schema#label pseudohypoparathyroidism type Ia
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:GNAS_gene
gptkbp:OMIM 103580
gptkbp:treatment active vitamin D analogs
calcium supplementation
gptkbp:bfsParent gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
gptkbp:bfsLayer 7