MCID: MCC012
MIFTS: 65

Mccune-Albright Syndrome

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Mccune-Albright Syndrome

MalaCards integrated aliases for Mccune-Albright Syndrome:

Name: Mccune-Albright Syndrome 57 76 53 25 59 75 29 13 6 73
Polyostotic Fibrous Dysplasia 12 76 53 25 59 73
Fibrous Dysplasia of Bone 12 76 59 44
Mas 57 53 25 75
Osteitis Fibrosa Disseminata 12 25 73
Mccune Albright Syndrome 12 53 15
Albright Syndrome 57 53 25
Fibrous Dysplasia, Polyostotic 37 44
Albright's Syndrome 76 25
Albright's Disease 53 25
Pofd 53 25
Pfd 53 25
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 25
Gonadotropin-Independent Female-Limited Sexual Precocity 59
Albright's Syndrome with Precocious Puberty 25
Mccune-Albright Syndrome, Somatic, Mosaic 57
Albright-Mccune-Sternberg Syndrome 25
Fibrous Dysplasia Polyostotic 55
Albright-Sternberg Syndrome 25
Mccune-Albright Syndrome ) 40
Albright's Disease of Bone 25

Characteristics:

Orphanet epidemiological data:

59
mccune-albright syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;
fibrous dysplasia of bone
Inheritance: Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
variable phenotype
activating or gain-of-function gnas1 mutations in patients with the mccune-albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues

Inheritance:
somatic mosaicism


HPO:

32
mccune-albright syndrome:
Inheritance somatic mosaicism
Onset and clinical course phenotypic variability


Classifications:



Summaries for Mccune-Albright Syndrome

NIH Rare Diseases : 53 McCune-Albright syndrome (MAS) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). Cafe-au-lait spots of the skin are common and are usually the first apparent sign of MAS. The main skeletal feature is fibrous dysplasia, which ranges in severity and can cause various complications. Early skeletal symptoms may include limping, pain, or fracture. Endocrinous features may include  precocious puberty especially in girls (resulting of estrogen excess from ovarian cysts),  excess growth hormone;  thyroid lesions with possible hyperthyroidism;  renal phosphate wasting, and, rarely, Cushing syndrome caused by an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. MAS is not inherited. MAS is caused by a somatic mutation in a gene called GNAS, which is acquired after an egg is fertilized and only affects some of the body's cells and tissues. Management depends on the symptoms in each person and may include optimizing function related to fractures and deformities; medications; and surgery.

MalaCards based summary : Mccune-Albright Syndrome, also known as polyostotic fibrous dysplasia, is related to fibrous dysplasia/mccune-albright syndrome and gigantism. An important gene associated with Mccune-Albright Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Pathways in cancer. The drugs Etidronic acid and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related phenotypes are long penis and macroorchidism

OMIM : 57 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004). (174800)

UniProtKB/Swiss-Prot : 75 McCune-Albright syndrome: Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha.

Genetics Home Reference : 25 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

Disease Ontology : 12 An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene.

Wikipedia : 76 McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine systems.... more...

Related Diseases for Mccune-Albright Syndrome

Diseases related to Mccune-Albright Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 34.7 GH1 PRL
2 gigantism 33.4 GH1 PRL
3 osteitis fibrosa 32.7 BGLAP GNAS
4 precocious puberty 31.8 CYP19A1 GH1 GNAS
5 testotoxicosis 31.1 CYP19A1 GNAS
6 hypothalamic disease 31.0 GH1 PRL
7 galactorrhea 30.9 IGF1 PRL
8 growth hormone secreting pituitary adenoma 30.2 GNAS PRL SST
9 hypothyroidism 30.1 GH1 GNAS IGF1 PRL
10 acromegaly 30.1 GH1 GNAS IGF1 PRL SST
11 hyperprolactinemia 29.9 GH1 IGF1 PRL SST
12 pseudohypoparathyroidism 29.7 APC BGLAP GNAS
13 primary hyperparathyroidism 29.6 BGLAP FGF23 PRL
14 ovarian disease 29.6 AMH CYP19A1 IGF1 PRL
15 adrenal gland hyperfunction 29.3 BGLAP GH1 PRL SST
16 adenoma 29.1 APC GH1 GNAS IGF1 PRL SST
17 hyperthyroidism 29.1 BGLAP GH1 GNAS PRL SST
18 pituitary tumors 29.1 GH1 GNAS IGF1 PRL SST
19 bone disease 27.9 BGLAP CYP19A1 FGF23 IBSP IGF1
20 fibrous dysplasia 27.9 APC BGLAP FGF23 GH1 GNAS IBSP
21 acth-independent macronodular adrenal hyperplasia 11.6
22 carney complex, type 1 11.2
23 legius syndrome 11.2
24 autosomal dominant café au lait spots 11.2
25 properdin deficiency, x-linked 11.2
26 fundus dystrophy, pseudoinflammatory, recessive form 11.0
27 pseudoinflammatory fundus dystrophy 11.0
28 adenohypophysitis 10.7 GH1 PRL
29 isolated growth hormone deficiency, type ib 10.6 GH1 IGF1
30 androgenic alopecia 10.6 CYP19A1 PRL
31 sheehan syndrome 10.6 IGF1 PRL
32 tetrahydrobiopterin deficiency 10.5 GH1 PRL
33 phosphorus metabolism disease 10.5 FGF23 GNAS
34 central nervous system organ benign neoplasm 10.5 IGF1 PRL
35 fourth cranial nerve palsy 10.5 APC PRL
36 pituitary adenoma 10.5
37 non-functioning pituitary adenoma 10.5 GH1 SST
38 albright's hereditary osteodystrophy 10.5 APC GNAS
39 thyroiditis 10.5
40 chromophobe adenoma 10.5 GH1 PRL
41 villous adenoma 10.4 GNAS SST
42 acidophil adenoma 10.4 IGF1 SST
43 pituitary stalk interruption syndrome 10.4 GH1 PRL
44 chiasmal syndrome 10.4 PRL SST
45 laron syndrome 10.4 GH1 IGF1
46 pituitary carcinoma 10.4 PRL SST
47 prolactin producing pituitary tumor 10.4 PRL SST
48 nelson syndrome 10.4 PRL SST
49 isolated growth hormone deficiency, type ii 10.3 GH1 IGF1
50 empty sella syndrome 10.3 GH1 IGF1 PRL

Graphical network of the top 20 diseases related to Mccune-Albright Syndrome:



Diseases related to Mccune-Albright Syndrome

Symptoms & Phenotypes for Mccune-Albright Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
precocious puberty
hyperthyroidism
hyperparathyroidism
acromegaly
cushing syndrome
more
Head And Neck Eyes:
blindness

Neoplasia:
pituitary adenoma

Head And Neck Ears:
deafness

Skin Nails Hair Skin:
large cafe au lait spots with irregular margins

Head And Neck Head:
craniofacial hyperostosis
cranial foramen impingement

Skeletal:
pathologic fracture
polyostotic fibrous dysplasia

Head And Neck Face:
facial asymmetry

Abdomen Gastrointestinal:
gastrointestinal polyps


Clinical features from OMIM:

174800

Human phenotypes related to Mccune-Albright Syndrome:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000040
2 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
3 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
4 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
5 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
6 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
7 hearing abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000364
8 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
9 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
10 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
11 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
12 precocious puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000826
13 hyperthyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000836
14 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
15 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
16 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
17 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
18 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
19 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
20 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
21 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
22 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
23 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
24 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
25 multiple cafe-au-lait spots 59 32 hallmark (90%) Very frequent (99-80%) HP:0007565
26 testicular neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010788
27 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
28 neoplasm of the breast 59 32 occasional (7.5%) Occasional (29-5%) HP:0100013
29 neoplasm of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100031
30 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
31 abnormality of the dentition 59 Occasional (29-5%)
32 abnormality of the palate 59 Occasional (29-5%)
33 abnormality of the face 59 Occasional (29-5%)
34 abnormality of the eye 59 Occasional (29-5%)
35 hypercortisolism 59 Occasional (29-5%)
36 facial asymmetry 32 HP:0000324
37 hearing impairment 32 HP:0000365
38 blindness 32 HP:0000618
39 growth hormone excess 32 HP:0000845
40 prolactin excess 32 HP:0000870
41 pathologic fracture 32 HP:0002756
42 pituitary adenoma 32 HP:0002893
43 increased circulating cortisol level 32 occasional (7.5%) HP:0003118
44 craniofacial hyperostosis 32 HP:0004493
45 large cafe-au-lait macules with irregular margins 32 HP:0005605
46 polyostotic fibrous dysplasia 32 HP:0010735
47 intestinal polyposis 32 HP:0200008
48 abnormal palate morphology 32 occasional (7.5%) HP:0000174

MGI Mouse Phenotypes related to Mccune-Albright Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 IGF1 CYP19A1 PRL FGF23 AMH GNAS
2 immune system MP:0005387 10.01 PRL FGF23 SST GNAS APC IBSP
3 endocrine/exocrine gland MP:0005379 10 PRL FGF23 AMH GNAS APC IGF1
4 integument MP:0010771 9.85 PRL FGF23 GNAS APC IGF1 CYP19A1
5 limbs/digits/tail MP:0005371 9.72 FGF23 GNAS APC IBSP IGF1
6 neoplasm MP:0002006 9.65 PRL AMH GNAS APC IGF1
7 renal/urinary system MP:0005367 9.55 FGF23 GNAS APC IGF1 CYP19A1
8 reproductive system MP:0005389 9.43 PRL FGF23 AMH APC IGF1 CYP19A1
9 skeleton MP:0005390 9.17 FGF23 SST GNAS APC IBSP IGF1

Drugs & Therapeutics for Mccune-Albright Syndrome

Drugs for Mccune-Albright Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etidronic acid Approved Phase 2, Phase 3 7414-83-7, 2809-21-4 3305
2 Bone Density Conservation Agents Phase 2, Phase 3
3 calcium channel blockers Phase 2, Phase 3
4 Calcium, Dietary Phase 2, Phase 3
5 Diphosphonates Phase 2, Phase 3
6 Risedronate Sodium Phase 2, Phase 3 115436-72-1
7 Hormones Phase 3,Phase 2,Phase 1
8 Hormone Antagonists Phase 3,Phase 2,Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
10
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
11
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
12
Testolactone Approved, Investigational Phase 2 968-93-4 13769
13
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
14 Antineoplastic Agents, Hormonal Phase 2
15 Aromatase Inhibitors Phase 2,Phase 1
16 Estrogen Antagonists Phase 2,Phase 1
17 Estrogens Phase 2,Phase 1
18 Steroid Synthesis Inhibitors Phase 2,Phase 1
19 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
20 Estrogen Receptor Antagonists Phase 2
21
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
22
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
23
Histamine Phosphate 51-74-1 65513
24 Neurotransmitter Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
2 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
3 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
4 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
5 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
6 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
7 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
8 Faslodex in McCune Albright Syndrome Active, not recruiting NCT00278915 Phase 2 Fulvestrant
9 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1 Letrozole
10 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
11 Histamine Responsiveness in McCune-Albright Syndrome Completed NCT00318097
12 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
13 Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
14 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
15 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
16 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Recruiting NCT02868645 Not Applicable
17 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Not yet recruiting NCT03520153

Search NIH Clinical Center for Mccune-Albright Syndrome

Cochrane evidence based reviews: fibrous dysplasia of bone

Genetic Tests for Mccune-Albright Syndrome

Genetic tests related to Mccune-Albright Syndrome:

# Genetic test Affiliating Genes
1 Mccune-Albright Syndrome 29 GNAS

Anatomical Context for Mccune-Albright Syndrome

MalaCards organs/tissues related to Mccune-Albright Syndrome:

41
Bone, Skin, Pituitary, Thyroid, Kidney, Adrenal Gland, Bone Marrow

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 382)
# Title Authors Year
1
Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. ( 29669167 )
2018
2
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. ( 29599748 )
2018
3
Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. ( 29672904 )
2018
4
Airway Management during Thyroidectomy for a Giant Goitre due to McCune-Albright Syndrome. ( 29854469 )
2018
5
Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome. ( 29071359 )
2018
6
Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. ( 28188442 )
2017
7
Long-term health outcomes of adults with McCune-Albright syndrome. ( 28699175 )
2017
8
Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature. ( 28242980 )
2017
9
Acromegaly with hypophosphataemia: McCune-Albright syndrome. ( 28963390 )
2017
10
Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017. ( 29292624 )
2017
11
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )
2017
12
Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. ( 28845837 )
2017
13
McCune-Albright Syndrome: Diagnosis and clinical course in eleven patients. ( 29198617 )
2017
14
Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )
2017
15
Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome. ( 28638307 )
2017
16
Secondary aneurysmal bone cyst in McCune-Albright syndrome. ( 29354163 )
2017
17
Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome. ( 29201948 )
2017
18
Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )
2017
19
Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. ( 28528327 )
2017
20
Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube. ( 29104223 )
2017
21
Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership. ( 28243882 )
2017
22
Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study. ( 28352837 )
2016
23
McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )
2016
24
Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )
2016
25
Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. ( 26588455 )
2016
26
Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. ( 27562402 )
2016
27
Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. ( 27492469 )
2016
28
[McCune-Albright syndrome revealed by Blaschko-linear cafAc-au-lait spots on the back]. ( 26610360 )
2016
29
Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome. ( 27161212 )
2016
30
Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )
2016
31
Expert's comment concerning Grand Rounds case entitled "Scoliosis correction surgery for patients with McCune-Albright syndrome using pedicle screws: a report of two cases with different characteristics and a review of the literature" (K. Yamane, M. Tanaka, Y. Sugimoto, H. Misawa and T. Ozaki). ( 25777535 )
2015
32
Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome. ( 26565547 )
2015
33
Low serum free thyroxine level in a girl with McCune-Albright syndrome. ( 25564585 )
2015
34
Scoliosis correction surgery for patients with McCune-Albright syndrome using pedicle screws: a report of two cases with different characteristics and a review of the literature. ( 25697334 )
2015
35
A case of craniofacial fibrous dysplasia associated with McCune-Albright syndrome lost to follow-up. ( 25721837 )
2015
36
Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome. ( 25402389 )
2014
37
Hepatobiliary and Pancreatic Neoplasms in Patients With McCune-Albright Syndrome. ( 24170100 )
2014
38
McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient. ( 25062453 )
2014
39
Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis. ( 24898823 )
2014
40
Anesthetic management of an acromegalic patient with McCune Albright syndrome for endoscopic transsphenoidal adenoma removal. ( 24598473 )
2014
41
Toxic Thyroid Adenoma in McCune-Albright Syndrome. ( 24701557 )
2014
42
Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome. ( 24850831 )
2014
43
Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome. ( 25120617 )
2014
44
A Suspected Case and Literature Review of McCune-Albright Syndrome. ( 25324661 )
2014
45
Oral pigmentation in McCune-Albright syndrome. ( 24671640 )
2014
46
Sudden Onset Vision Loss in an 8-year-old Female with McCune-Albright Syndrome. ( 23013381 )
2014
47
Endoscopic Decompression for Optic Neuropathy in McCune-Albright Syndrome. ( 25368777 )
2014
48
Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines. ( 25043984 )
2014
49
Images in clinical medicine: McCune-Albright syndrome. ( 24476078 )
2014
50
Acromegaly and McCune-Albright syndrome. ( 24517150 )
2014

Variations for Mccune-Albright Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Mccune-Albright Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 GNAS p.Arg201His VAR_003441 rs121913495
2 GNAS p.Arg201Cys VAR_003442 rs11554273
3 GNAS p.Arg201Gly VAR_017844 rs11554273

ClinVar genetic disease variations for Mccune-Albright Syndrome:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
5 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
6 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
7 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
8 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
9 GNAS NM_000516.5(GNAS): c.601C> G (p.Arg201Gly) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
10 GNAS NM_000516.5(GNAS): c.601C> G (p.Arg201Gly) single nucleotide variant Pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
11 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
12 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
13 GNAS NM_000516.5(GNAS): c.679C> A (p.Gln227Lys) single nucleotide variant Pathogenic rs797045203 GRCh38 Chromosome 20, 58909540: 58909540
14 GNAS NM_000516.5(GNAS): c.679C> A (p.Gln227Lys) single nucleotide variant Pathogenic rs797045203 GRCh37 Chromosome 20, 57484595: 57484595
15 GNAS NM_000516.5(GNAS): c.680A> T (p.Gln227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
16 GNAS NM_000516.5(GNAS): c.680A> T (p.Gln227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
17 GNAS NM_000516.5(GNAS): c.681G> T (p.Gln227His) single nucleotide variant Pathogenic rs137854533 GRCh38 Chromosome 20, 58909542: 58909542
18 GNAS NM_000516.5(GNAS): c.681G> T (p.Gln227His) single nucleotide variant Pathogenic rs137854533 GRCh37 Chromosome 20, 57484597: 57484597
19 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
20 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
21 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
22 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720

Copy number variations for Mccune-Albright Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 142828 2 230700000 242951149 Microdeletion Albright''s disease

Expression for Mccune-Albright Syndrome

Search GEO for disease gene expression data for Mccune-Albright Syndrome.

Pathways for Mccune-Albright Syndrome

GO Terms for Mccune-Albright Syndrome

Cellular components related to Mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 AMH BGLAP FGF23 GH1 IBSP IGF1
2 extracellular region GO:0005576 9.28 AMH BGLAP FGF23 GH1 GNAS IBSP
3 endosome lumen GO:0031904 9.16 GH1 PRL

Biological processes related to Mccune-Albright Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.7 FGF23 IGF1 PRL
2 skeletal system development GO:0001501 9.58 BGLAP GNAS IGF1
3 bone mineralization GO:0030282 9.54 BGLAP IBSP
4 biomineral tissue development GO:0031214 9.51 BGLAP IBSP
5 mammary gland development GO:0030879 9.49 CYP19A1 PRL
6 regulation of multicellular organism growth GO:0040014 9.48 IGF1 PRL
7 positive regulation of JAK-STAT cascade GO:0046427 9.46 GH1 PRL
8 response to drug GO:0042493 9.46 AMH BGLAP GNAS SST
9 regulation of bone mineralization GO:0030500 9.43 BGLAP FGF23
10 regulation of signaling receptor activity GO:0010469 9.43 AMH FGF23 GH1 IGF1 PRL SST
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.37 GH1 PRL
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.32 GH1 IGF1
13 cellular response to vitamin D GO:0071305 9.26 BGLAP FGF23
14 response to nutrient levels GO:0031667 8.92 BGLAP GH1 IGF1 PRL

Molecular functions related to Mccune-Albright Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.46 AMH FGF23 GH1 IGF1
2 insulin-like growth factor receptor binding GO:0005159 9.26 GNAS IGF1
3 hormone activity GO:0005179 9.02 AMH GH1 IGF1 PRL SST
4 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Mccune-Albright Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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