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pseudohypoparathyroidism type 1A
Summary
- Synonym
-
- Albright hereditary osteodystrophy
- Albright's hereditary osteodystrophy
- PHP Ia
- Definition
- A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.
- Super Class
- pseudohypoparathyroidism
External Links
- Disease Ontology
- DOID:0080053
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5JWF2 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6R0H7 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
