Details of Disease | DrugMAP

General Information of Disease (ID: DISCO2QT)

Disease Name	McCune-Albright syndrome
Synonyms	polyostotic fibrous dysplasia; PFD; POFD; Albright's disease; mccune-albright syndrome, somatic, mosaic; gonadotropin-independent female-limited sexual precocity; MAS; McCune Albright Syndrome; McCune Albright syndrome
Definition	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS5Z8U6: Skeletal dysplasia DISCO2QT: McCune-Albright syndrome
Disease Identifiers	MONDO ID MONDO_0018919 MESH ID D005359 UMLS CUI C0242292 OMIM ID 174800 MedGen ID 69164 Orphanet ID 562 SNOMED CT ID 726029005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GH1	TTT3YKH	Limited	Biomarker	[1]
ADCY1	TTV1ZSQ	Strong	Genetic Variation	[2]
CFD	TT8D13I	Strong	Altered Expression	[3]
COASY	TT4YO0Z	Strong	Genetic Variation	[4]
FGF23	TT2IZ4K	Strong	Biomarker	[5]
MAS1	TTOISYB	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIP	OTDJ3OSV	Strong	Genetic Variation	[7]
AMY1A	OT6G4B8O	Strong	Altered Expression	[8]
GBP1	OTUM7RPJ	Strong	Genetic Variation	[9]
RNF216	OTR1XEZ3	Strong	Genetic Variation	[10]
SUCLG1	OTDCSPXH	Strong	Genetic Variation	[11]
GNAS	OTMH8BKJ	Definitive	Somatic mosaicism	[12]
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⏷ Show the Full List of 6 DOT(s)

References

1	Presence of aberrant adrenocorticotropic hormone precursors in two cases of McCune-Albright syndrome.Endocr J. 2020 Mar 28;67(3):353-359. doi: 10.1507/endocrj.EJ19-0449. Epub 2019 Dec 4.
2	McCune-Albright syndrome: molecular genetics.J Pediatr Endocrinol Metab. 2002;15 Suppl 3:875-82.
3	EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME-RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE.Endocr Pract. 2019 Jan;25(1):23-30. doi: 10.4158/EP-2018-0328. Epub 2018 Nov 1.
4	Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome.Front Endocrinol (Lausanne). 2018 Jun 22;9:337. doi: 10.3389/fendo.2018.00337. eCollection 2018.
5	Clinical approach to clarifying the mechanism of abnormal bone metabolism in McCune-Albright syndrome.J Bone Miner Metab. 2006;24(1):7-10. doi: 10.1007/s00774-005-0638-z.
6	Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.Orphanet J Rare Dis. 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9.
7	Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature.Orphanet J Rare Dis. 2011 Oct 24;6:67. doi: 10.1186/1750-1172-6-67.
8	Elevated salivary alpha-amylase levels at awakening in patients with depression.Psychoneuroendocrinology. 2018 Nov;97:69-77. doi: 10.1016/j.psyneuen.2018.07.001. Epub 2018 Jul 6.
9	Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts.Virchows Arch. 2004 Mar;444(3):293-9. doi: 10.1007/s00428-003-0955-3. Epub 2004 Jan 20.
10	Genetic and molecular aspects of McCune-Albright syndrome.Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:380-5.
11	Identification of a second-site suppressor mutation of the GTPase defect associated with McCune-Albright syndrome: a model using the yeast heterotrimeric G protein, GPA1.Arch Physiol Biochem. 2006 Jul;112(3):166-73. doi: 10.1080/13813450600935271.
12	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.