Details of Disease | DrugMAP

General Information of Disease (ID: DISRRO5I)

Disease Name	Pseudopseudohypoparathyroidism
Synonyms	Albright hereditary osteodystrophy without multiple hormone resistance; Pseudopseudo-hypoparathyroidism; pseudo-pseudohypoparathyroidism; PPHP; pseudopseudohypoparathyroidism; Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]; Albright hereditary osteodystrophy-PPHP syndrome; Normocalcemic pseudohypoparathyroidism; Albright Hereditary osteodystrophy with multiple hormone resistance; aho-PPHP syndrome
Definition	A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).
Disease Hierarchy	DISSAFPH: Disorder of GNAS inactivation DISMZUIT: Acromelic dysplasia DIS183OJ: Pseudohypoparathyroidism DISRRO5I: Pseudopseudohypoparathyroidism
Disease Identifiers	MONDO ID MONDO_0012912 MESH ID D011556 UMLS CUI C0033835 OMIM ID 612463 MedGen ID 10995 Orphanet ID 79445 SNOMED CT ID 237659007

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	Strong	Genetic Variation	[1]
HCAR3	TT8WFXV	Strong	Biomarker	[2]
PTH	TT6F7GZ	Strong	Biomarker	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STK24	OTGUHOIL	Limited	Biomarker	[4]
STK25	OT4YPNTF	Limited	Biomarker	[4]
ASAH1	OT1DNGXL	Strong	Genetic Variation	[5]
PHPT1	OTFYWNFX	Strong	Genetic Variation	[5]
SOX3	OT1CRCOB	Strong	Genetic Variation	[5]
GNAS	OTMH8BKJ	Definitive	Mitochondrial	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.Am J Med Genet A. 2019 Jul;179(7):1330-1337. doi: 10.1002/ajmg.a.61163. Epub 2019 May 1.
2	GNAS1 mutational analysis in pseudohypoparathyroidism.Clin Endocrinol (Oxf). 1998 Oct;49(4):525-31.
3	A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.Exp Clin Endocrinol Diabetes. 2010 Oct;118(9):586-90. doi: 10.1055/s-0029-1237708. Epub 2009 Oct 23.
4	STK25 is a candidate gene for pseudopseudohypoparathyroidism.Genomics. 2001 Sep;77(1-2):2-4. doi: 10.1006/geno.2001.6605.
5	Pseudohypoparathyroidism Ia and hypercalcitoninemia.J Clin Endocrinol Metab. 2001 Jul;86(7):3091-6. doi: 10.1210/jcem.86.7.7690.
6	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.