Details of Disease | DrugMAP

General Information of Disease (ID: DIS183OJ)

Disease Name	Pseudohypoparathyroidism
Definition	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).
Disease Hierarchy	DIS7K8TV: Hereditary hypoparathyroidism DISZ75RJ: Inherited renal tubular disease DISMFQKM: Developmental anomaly of metabolic origin DIS0HB59: Inborn metal metabolism disorder DIS183OJ: Pseudohypoparathyroidism
Disease Identifiers	MONDO ID MONDO_0019992 MESH ID D011547 UMLS CUI C0033806 MedGen ID 46178 HPO ID HP:0000852 Orphanet ID 97593 SNOMED CT ID 58976002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COASY	TT4YO0Z	Disputed	Genetic Variation	[1]
HCAR3	TT8WFXV	Strong	Genetic Variation	[2]
PRMT7	TTAR2P0	Strong	Genetic Variation	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNU13	OTH56TIH	Limited	Genetic Variation	[4]
STK25	OT4YPNTF	Limited	Biomarker	[5]
ASAH1	OT1DNGXL	Strong	Biomarker	[6]
GHRH	OT94U6MO	Strong	Biomarker	[7]
PHPT1	OTFYWNFX	Strong	Biomarker	[6]
SOX3	OT1CRCOB	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism.Eur J Pediatr. 1999 Mar;158(3):200-3. doi: 10.1007/s004310051048.
2	Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.Endocr J. 1997 Aug;44(4):621-5. doi: 10.1507/endocrj.44.621.
3	Further delineation of the phenotype caused by loss of function mutations in PRMT7.Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10.
4	Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.J Med Genet. 2014 Apr;51(4):229-38. doi: 10.1136/jmedgenet-2013-102116. Epub 2014 Feb 5.
5	STK25 is a candidate gene for pseudopseudohypoparathyroidism.Genomics. 2001 Sep;77(1-2):2-4. doi: 10.1006/geno.2001.6605.
6	Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1089-94. doi: 10.1515/jpem-2014-0020.
7	A sporadic case of pseudohypoparathyroidism type 1 and idiopathic primary adrenal insufficiency associated with a novel mutation in the GNAS1 gene.Endocr Pract. 2014 Oct;20(10):e202-6. doi: 10.4158/EP14020.CR.