MCID: FBR083
MIFTS: 26

Fibrous Dysplasia/mccune-Albright Syndrome

Categories: Rare diseases

Aliases & Classifications for Fibrous Dysplasia/mccune-Albright Syndrome

MalaCards integrated aliases for Fibrous Dysplasia/mccune-Albright Syndrome:

Name: Fibrous Dysplasia/mccune-Albright Syndrome 25 58
Fibrous Dysplasia/mccune-Albright Spectrum 58
Fd/mas Spectrum 58
Fd/mas Syndrome 58
Fd/mas 25

Classifications:



External Ids:

Orphanet 58 ORPHA595216

Summaries for Fibrous Dysplasia/mccune-Albright Syndrome

MalaCards based summary : Fibrous Dysplasia/mccune-Albright Syndrome, also known as fibrous dysplasia/mccune-albright spectrum, is related to fibrous dysplasia and mccune-albright syndrome. An important gene associated with Fibrous Dysplasia/mccune-Albright Syndrome is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Peptide ligand-binding receptors and TGF-Beta Pathway. The drugs Fluorodeoxyglucose F18 and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone marrow and pancreas.

GeneReviews: NBK274564

Related Diseases for Fibrous Dysplasia/mccune-Albright Syndrome

Diseases related to Fibrous Dysplasia/mccune-Albright Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 30.7 PRL GNAS GH1
2 mccune-albright syndrome 30.7 PRL GNAS GH1
3 precocious puberty 30.6 GNAS GH1
4 ovarian cyst 30.3 PRL GNAS
5 chromophobe adenoma 30.3 PRL GH1
6 gigantism 30.3 PRL GH1
7 acromegaly 30.2 PRL GNAS GH1
8 hormone producing pituitary cancer 30.2 PRL GNAS
9 hyperthyroidism 30.0 PRL GNAS GH1
10 pituitary adenoma 29.7 PRL GNAS GH1
11 adenoma 29.7 PRL GNAS GH1
12 conn's syndrome 29.7 PRL GNAS GH1
13 hypophosphatemia 10.5
14 scoliosis 10.4
15 bone disease 10.4
16 monostotic fibrous dysplasia 10.4
17 arachnoid cysts, intracranial 10.2
18 osteogenic sarcoma 10.2
19 hypophosphatemic rickets, x-linked recessive 10.2
20 aneurysmal bone cysts 10.2
21 gallbladder disease 10.2
22 rickets 10.2
23 infertility 10.2
24 lung disease 10.2
25 cutaneous-skeletal hypophosphatemia syndrome 10.2
26 mast cell activation syndrome 10.2
27 thyroid carcinoma 10.2
28 adenohypophysitis 10.0 PRL GH1
29 tsh producing pituitary tumor 10.0 PRL GH1
30 hypothyroidism, congenital, nongoitrous, 4 10.0 PRL GH1
31 pituitary-dependent cushing's disease 10.0 PRL GH1
32 hypothalamic disease 10.0 PRL GH1
33 partial third-nerve palsy 10.0 PRL GH1
34 pituitary apoplexy 10.0 PRL GH1
35 empty sella syndrome 10.0 PRL GH1
36 van maldergem syndrome 1 10.0 PRL GH1
37 pituitary adenoma 1, multiple types 10.0 PRL GH1
38 tetrahydrobiopterin deficiency 10.0 PRL GH1
39 pituitary hypoplasia 9.9 PRL GH1
40 functioning pituitary adenoma 9.9 PRL GH1
41 pituitary hormone deficiency, combined, 2 9.9 PRL GH1
42 acanthosis nigricans 9.9 PRL GH1
43 diabetes insipidus 9.9 PRL GH1
44 septooptic dysplasia 9.9 PRL GH1
45 pseudohypoparathyroidism 9.9 PRL GNAS
46 insulin-like growth factor i 9.9 PRL GH1
47 craniopharyngioma 9.9 PRL GH1
48 hypopituitarism 9.9 PRL GH1
49 pituitary carcinoma 9.8 PRL GNAS
50 acth-secreting pituitary adenoma 9.8 PRL GNAS

Graphical network of the top 20 diseases related to Fibrous Dysplasia/mccune-Albright Syndrome:



Diseases related to Fibrous Dysplasia/mccune-Albright Syndrome

Symptoms & Phenotypes for Fibrous Dysplasia/mccune-Albright Syndrome

Drugs & Therapeutics for Fibrous Dysplasia/mccune-Albright Syndrome

Drugs for Fibrous Dysplasia/mccune-Albright Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18
2 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Elucidating Mechanisms of Pain in Adolescent and Adult Fibrous Dysplasia Patients Recruiting NCT04125862
2 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
3 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Withdrawn NCT03520153

Search NIH Clinical Center for Fibrous Dysplasia/mccune-Albright Syndrome

Genetic Tests for Fibrous Dysplasia/mccune-Albright Syndrome

Anatomical Context for Fibrous Dysplasia/mccune-Albright Syndrome

MalaCards organs/tissues related to Fibrous Dysplasia/mccune-Albright Syndrome:

40
Pituitary, Bone Marrow, Pancreas

Publications for Fibrous Dysplasia/mccune-Albright Syndrome

Articles related to Fibrous Dysplasia/mccune-Albright Syndrome:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome. 61 25
29071359 2018
2
Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. 25
29192304 2018
3
Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia. 25
28856726 2018
4
Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia. 25
29022055 2018
5
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. 25
28612379 2017
6
Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. 25
28258512 2017
7
Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. 25
28188442 2017
8
Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome‚Ä©. 25
28334704 2017
9
Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. 25
27497815 2016
10
Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. 25
27562402 2016
11
Neonatal McCune-Albright Syndrome with Giant Cell Hepatitis. 25
27592093 2016
12
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis. 25
27521067 2016
13
Bone-Grafting in Polyostotic Fibrous Dysplasia. 25
26842411 2016
14
Transient improvement of severe pain from fibrous dysplasia of bone with denosumab treatment. 25
24962974 2014
15
A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone. 25
25033066 2014
16
Acromegaly: an endocrine society clinical practice guideline. 25
25356808 2014
17
Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis. 25
24898823 2014
18
Acromegaly and McCune-Albright syndrome. 25
24517150 2014
19
Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia. 25
24316419 2014
20
Rapid biochemical response to denosumab in fibrous dysplasia of bone: report of two cases. 25
24311113 2014
21
Hepatobiliary and Pancreatic neoplasms in patients with McCune-Albright syndrome. 25
24170100 2014
22
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 25
24006476 2014
23
Aneurysmal bone cyst within fibrous dysplasia of the anterior skull base: continued intracranial extension after endoscopic resections requiring craniofacial approach with free tissue transfer reconstruction. 25
23435492 2013
24
Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. 25
23093488 2013
25
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. 25
23536913 2013
26
Characterization and management of testicular pathology in McCune-Albright syndrome. 25
22745241 2012
27
Denosumab treatment for fibrous dysplasia. 25
22431375 2012
28
Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome. 25
22564667 2012
29
International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas. 25
22687371 2012
30
Mechanism of FGF23 processing in fibrous dysplasia. 25
22247037 2012
31
Clinical guidelines for the management of craniofacial fibrous dysplasia. 25
22640797 2012
32
The surgical management of fibrous dysplasia of bone. 25
22640754 2012
33
Thyroid abnormalities in children and adolescents with McCune-Albright syndrome. 25
23006743 2012
34
Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome. 25
21836496 2011
35
Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia--a meta-analysis. 25
21966448 2011
36
A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy. 25
21823524 2011
37
Cushing syndrome in the McCune-Albright syndrome. 25
20157193 2010
38
Scoliosis and spine involvement in fibrous dysplasia of bone. 25
19130098 2009
39
Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone. 25
18597624 2008
40
The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. 25
18349068 2008
41
Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. 25
17622477 2008
42
The genomic landscapes of human breast and colorectal cancers. 25
17932254 2007
43
Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. 25
17501668 2007
44
Persistent hyperestrogenism after precocious puberty in young females with McCune-Albright syndrome. 25
17982390 2007
45
Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. 25
17405850 2007
46
A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. 25
17493233 2007
47
Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples. 25
17132753 2006
48
Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. 25
17143235 2006
49
Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. 25
15963775 2005
50
An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone. 25
15647815 2005

Variations for Fibrous Dysplasia/mccune-Albright Syndrome

Expression for Fibrous Dysplasia/mccune-Albright Syndrome

Search GEO for disease gene expression data for Fibrous Dysplasia/mccune-Albright Syndrome.

Pathways for Fibrous Dysplasia/mccune-Albright Syndrome

Pathways related to Fibrous Dysplasia/mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 PRL GNAS GH1
2
Show member pathways
12.74 PRL GNAS GH1
3
Show member pathways
12.32 PRL GNAS GH1
4
Show member pathways
11.97 PRL GNAS GH1
5
Show member pathways
11.82 PRL GH1
6
Show member pathways
11.65 PRL GH1
7 11.12 GNAS GH1
8
Show member pathways
10.24 PRL GH1

GO Terms for Fibrous Dysplasia/mccune-Albright Syndrome

Cellular components related to Fibrous Dysplasia/mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 PRL GH1

Biological processes related to Fibrous Dysplasia/mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.26 PRL GNAS
2 response to nutrient levels GO:0031667 9.16 PRL GH1
3 positive regulation of JAK-STAT cascade GO:0046427 8.96 PRL GH1
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.62 PRL GH1

Molecular functions related to Fibrous Dysplasia/mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 PRL GH1
2 prolactin receptor binding GO:0005148 8.62 PRL GH1

Sources for Fibrous Dysplasia/mccune-Albright Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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