Disease Information

General Information of the Disease (ID: DIS00348)

• Name: Albright hereditary osteodystrophy syndrome
• ICD: ICD-11: LD44

Type(s) of Resistant Mechanism of This Disease

  UAPP: Unusual Activation of Pro-survival Pathway

Drug Resistance Data Categorized by Drug

Investigative Drug(s) 1 drug(s) in total

Thyrotropin

Drug Resistance Data Categorized by Their Corresponding Mechanisms

Unusual Activation of Pro-survival Pathway (UAPP)

Key Molecule: Adenylate cyclase-stimulating G alpha protein (GNAS) [1]

• Resistant Disease: Albright hereditary osteodystrophy syndrome [ICD-11: LD44.20]
• Molecule Alteration: Expression; Down-regulation
• Resistant Drug: Thyrotropin
• Experimental Note: Identified from the Human Clinical Data
• Mechanism Description: Heterozygous germline mutations in the gene encoding the alpha subunit of G stimulatory protein (Gsalpha, GNAS1) cause hypocalcemia and hyperphosphatemia due to impaired signaling transduction from the parathormone receptor (pseudohypoparathyroidism, PHP Ia). Haploinsufficiency for GNAS1 also explains the resistance to other hormones, specifically gonadotropins and TSH.

References

• Ref 1: Resistance to thyrotropin .Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):183-194. doi: 10.1016/j.beem.2017.03.004. Epub 2017 Mar 30. 10.1016/j.beem.2017.03.004