Details of Disease

General Information of Disease (ID: DISSOR3M)

• Disease Name: Pseudohypoparathyroidism type 1A
• Synonyms: AHO; Pseudohypoparathyroidism, type 1A; PHP 1A; Pseudohypoparathyroidism, type IA; AHO-PHP syndrome Ia; PHP1A; Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy with multiple hormone resistance; Albright hereditary osteodystrophy-PHP syndrome Ia; Pseudohypoparathyroidism Ia; Albright hereditary osteodystrophy; Albright's hereditary osteodystrophy
• Definition: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
• Disease Hierarchy:
  DISSAFPH: Disorder of GNAS inactivation
  DISMZUIT: Acromelic dysplasia
  DIS183OJ: Pseudohypoparathyroidism
  DISSOR3M: Pseudohypoparathyroidism type 1A
• Disease Identifiers:
  MONDO ID: MONDO_0007078
  MESH ID: D011547
  UMLS CUI: C3494506
  OMIM ID: 103580
  MedGen ID: 488447
  Orphanet ID: 79443
  SNOMED CT ID: 58833000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COASY	TT4YO0Z	Limited	Genetic Variation	[1]
HDAC4	TTTQGH8	Limited	Genetic Variation	[2]
GPR35	TT254XD	Strong	Biomarker	[3]
HCAR3	TT8WFXV	Strong	Biomarker	[4]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GHRH	OT94U6MO	Limited	Biomarker	[5]
MTG1	OTC9U1LI	Limited	Genetic Variation	[6]
ASAH1	OT1DNGXL	Strong	Genetic Variation	[7]
GPC1	OTQKRSSV	Strong	Biomarker	[3]
PHPT1	OTFYWNFX	Strong	Genetic Variation	[7]
SOX3	OT1CRCOB	Strong	Genetic Variation	[7]
STK25	OT4YPNTF	Strong	Biomarker	[3]
STX16	OTM7TAOE	Strong	Posttranslational Modification	[8]
GNAS	OTMH8BKJ	Definitive	Mitochondrial	[9]

References

• [1] Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism.Horm Res Paediatr. 2015;83(2):111-7. doi: 10.1159/000369492. Epub 2015 Jan 9.
• [2] The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.
• [3] Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.Clin Genet. 2004 Dec;66(6):537-44. doi: 10.1111/j.1399-0004.2004.00363.x.
• [4] GNAS1 mutational analysis in pseudohypoparathyroidism.Clin Endocrinol (Oxf). 1998 Oct;49(4):525-31.
• [5] Novel Opportunities for Improving the Quality of Preanalytical Phase. A Glimpse to the Future?.J Med Biochem. 2017 Oct 28;36(4):293-300. doi: 10.1515/jomb-2017-0029. eCollection 2017 Oct.
• [6] Disease-Causing Mutations in the G Protein Gs Subvert the Roles of GDP and GTP.Cell. 2018 May 17;173(5):1254-1264.e11. doi: 10.1016/j.cell.2018.03.018. Epub 2018 Apr 5.
• [7] Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.J Bone Miner Res. 2018 Aug;33(8):1480-1488. doi: 10.1002/jbmr.3450. Epub 2018 Jun 7.
• [8] Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. doi: 10.1210/jc.2009-0176. Epub 2010 Jan 8.
• [9] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.