MAS
MCID: MCC012
MIFTS: 66

Mccune-Albright Syndrome (MAS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin 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
Mccunealbright Syndrome 76

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 Risedronate Sodium have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related phenotypes are macrocephaly and precocious puberty

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.

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

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.

Wikipedia : 76 McCune�??Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine... 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 196)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 34.2 PRL GH1
2 gigantism 32.9 PRL GH1
3 osteitis fibrosa 32.8 GNAS BGLAP
4 precocious puberty 31.6 GNAS GH1 CYP19A1
5 osteofibrous dysplasia 31.5 BGLAP GNAS
6 fibrous dysplasia 31.4 SST PRL IGF1 IBSP GNAS GH1
7 acromegaly 31.0 SST PRL IGF1 GNAS GH1
8 testotoxicosis 30.6 GNAS CYP19A1
9 hypothalamic disease 30.6 PRL GH1
10 galactorrhea 30.5 PRL IGF1
11 chromophobe adenoma 30.5 GH1 PRL
12 hyperthyroidism 30.4 SST PRL GNAS GH1 BGLAP
13 adenoma 30.4 SST PRL IGF1 GNAS GH1 APC
14 hyperprolactinemia 30.4 SST PRL IGF1 GH1
15 pseudohypoparathyroidism 30.3 GNAS BGLAP APC
16 conn's syndrome 30.3 SST PRL GNAS GH1
17 ovarian disease 30.3 PRL IGF1 CYP19A1 AMH
18 primary hyperparathyroidism 30.3 PRL FGF23 BGLAP
19 multiple endocrine neoplasia, type i 30.2 SST PRL GNAS
20 empty sella syndrome 30.2 PRL IGF1 GH1
21 hypothyroidism 30.2 PRL IGF1 GNAS GH1
22 bone disease 29.6 IGF1 IBSP FGF23 CYP19A1 BGLAP
23 osteoporosis 29.3 IGF1 IBSP GH1 FGF23 CYP19A1 BGLAP
24 properdin deficiency, x-linked 11.8
25 acth-independent macronodular adrenal hyperplasia 11.7
26 carney complex, type 1 11.4
27 legius syndrome 11.4
28 autosomal dominant café au lait spots 11.4
29 fundus dystrophy, pseudoinflammatory, recessive form 11.2
30 pseudoinflammatory fundus dystrophy 11.2
31 amenorrhea-galactorrhea syndrome 11.0
32 pituitary adenoma 10.6
33 ovarian cyst 10.5
34 carney complex variant 10.4
35 testicular microlithiasis 10.4
36 hypophosphatemia 10.4
37 scoliosis 10.4
38 rickets 10.4
39 hyperparathyroidism 10.4
40 optic nerve disease 10.4
41 neuropathy 10.4
42 mazabraud syndrome 10.4
43 chondrosarcoma 10.3
44 hypophosphatemic rickets, x-linked recessive 10.3
45 hypogonadotropic hypogonadism 10.3
46 cholestasis 10.3
47 hypogonadism 10.3
48 sarcoma 10.3
49 adenohypophysitis 10.2 PRL GH1
50 coxa vara 10.2

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 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 precocious puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000826
3 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
4 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
7 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
8 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
9 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
10 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
11 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
12 hearing abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000364
13 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
14 hyperthyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000836
15 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
16 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
17 multiple cafe-au-lait spots 59 32 hallmark (90%) Very frequent (99-80%) HP:0007565
18 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
19 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
20 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
21 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
22 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
23 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
24 long penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000040
25 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
26 neoplasm of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100031
27 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
28 testicular neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010788
29 neoplasm of the breast 59 32 occasional (7.5%) Occasional (29-5%) HP:0100013
30 hearing impairment 32 HP:0000365
31 craniofacial hyperostosis 32 HP:0004493
32 abnormality of the dentition 59 Occasional (29-5%)
33 blindness 32 HP:0000618
34 abnormality of the eye 59 Occasional (29-5%)
35 pathologic fracture 32 HP:0002756
36 elevated hepatic transaminases 59 Occasional (29-5%)
37 abnormality of the face 59 Occasional (29-5%)
38 growth hormone excess 32 HP:0000845
39 pituitary adenoma 32 HP:0002893
40 hypercortisolism 59 Occasional (29-5%)
41 abnormality of the palate 59 Occasional (29-5%)
42 facial asymmetry 32 HP:0000324
43 intestinal polyposis 32 HP:0200008
44 increased circulating cortisol level 32 occasional (7.5%) HP:0003118
45 prolactin excess 32 HP:0000870
46 polyostotic fibrous dysplasia 32 HP:0010735
47 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910
48 large cafe-au-lait macules with irregular margins 32 HP:0005605
49 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 AMH APC CYP19A1 FGF23 GNAS IGF1
2 immune system MP:0005387 10.01 APC CYP19A1 FGF23 GNAS IBSP IGF1
3 endocrine/exocrine gland MP:0005379 10 AMH APC CYP19A1 FGF23 GNAS IGF1
4 integument MP:0010771 9.85 APC CYP19A1 FGF23 GNAS IGF1 PRL
5 limbs/digits/tail MP:0005371 9.72 APC FGF23 GNAS IBSP IGF1
6 neoplasm MP:0002006 9.65 AMH APC GNAS IGF1 PRL
7 renal/urinary system MP:0005367 9.55 APC CYP19A1 FGF23 GNAS IGF1
8 reproductive system MP:0005389 9.43 AMH APC CYP19A1 FGF23 IGF1 PRL
9 skeleton MP:0005390 9.17 APC CYP19A1 FGF23 GNAS IBSP IGF1

Drugs & Therapeutics for Mccune-Albright Syndrome

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

(show all 26)
# 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 Risedronate Sodium Phase 2, Phase 3 115436-72-1
3 Calcium, Dietary Phase 2, Phase 3
4 calcium channel blockers Phase 2, Phase 3
5 Diphosphonates Phase 2, Phase 3
6 Bone Density Conservation Agents Phase 2, Phase 3
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 66376-36-1, 121268-17-5 2088
12
Testolactone Approved, Investigational Phase 2 968-93-4 13769
13
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
14 Estrogen Antagonists Phase 2,Phase 1
15 Aromatase Inhibitors Phase 2,Phase 1
16 Estrogens Phase 2,Phase 1
17 Steroid Synthesis Inhibitors Phase 2,Phase 1
18 Estrogen Receptor Antagonists Phase 2,Phase 1
19 Antineoplastic Agents, Hormonal Phase 2
20 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
21
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
22
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
23
Histamine Phosphate 51-74-1 65513
24 Neurotransmitter Agents
25 insulin
26 Insulin, Globin Zinc

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 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Completed NCT02868645 Not Applicable
15 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
16 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
17 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome 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, Ovary

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 577)
# 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
Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome. ( 29991465 )
2018
7
Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit. ( 29976033 )
2018
8
Craniofacial polyostotic fibrous dysplasia: imaging findings. ( 30236461 )
2018
9
Pathological fracture of the humerus and subsequent diagnosis of polyostotic fibrous dysplasia. ( 30342755 )
2018
10
EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE. ( 30383490 )
2018
11
Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome. ( 30442414 )
2018
12
Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome. ( 30150346 )
2018
13
Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome. ( 30454028 )
2018
14
Management of precocious puberty in girls with McCune-Albright syndrome using letrozole. ( 30475223 )
2018
15
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review. ( 29984378 )
2018
16
Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome. ( 29988390 )
2018
17
Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. ( 30124968 )
2018
18
Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. ( 28188442 )
2017
19
Long-term health outcomes of adults with McCune-Albright syndrome. ( 28699175 )
2017
20
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
21
Acromegaly with hypophosphataemia: McCune-Albright syndrome. ( 28963390 )
2017
22
Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017. ( 29292624 )
2017
23
McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )
2017
24
Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. ( 28845837 )
2017
25
McCune-Albright Syndrome: Diagnosis and clinical course in eleven patients. ( 29198617 )
2017
26
Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )
2017
27
Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome. ( 28638307 )
2017
28
Secondary aneurysmal bone cyst in McCune-Albright syndrome. ( 29354163 )
2017
29
Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome. ( 29201948 )
2017
30
Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )
2017
31
Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. ( 28528327 )
2017
32
Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube. ( 29104223 )
2017
33
Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership. ( 28243882 )
2017
34
18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia. ( 28806239 )
2017
35
Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note. ( 28439311 )
2017
36
Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome. ( 28007843 )
2017
37
Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study. ( 28352837 )
2016
38
McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )
2016
39
Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )
2016
40
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
41
Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. ( 27562402 )
2016
42
Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. ( 27492469 )
2016
43
[McCune-Albright syndrome revealed by Blaschko-linear cafAc-au-lait spots on the back]. ( 26610360 )
2016
44
Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome. ( 27161212 )
2016
45
Two-Stage Surgical Treatment of Complex Femoral Deformities with Severe Coxa Vara in Polyostotic Fibrous Dysplasia. ( 30237924 )
2016
46
Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )
2016
47
Extensive polyostotic fibrous dysplasia evaluated for malignant transformation with 99mTc-MDP bone scan and 18F-FDG PET/CT. ( 30459987 )
2016
48
Polyostotic fibrous dysplasia presenting with back pain radiating to the ribs. ( 26724398 )
2016
49
Polyostotic fibrous dysplasia: a rare cause of pathological fractures in young patients. ( 26744536 )
2016
50
McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases. ( 26850292 )
2016

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 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.69 FGF23 IGF1 PRL
2 skeletal system development GO:0001501 9.61 BGLAP GNAS IGF1
3 response to organic cyclic compound GO:0014070 9.58 AMH BGLAP PRL
4 bone mineralization GO:0030282 9.55 BGLAP IBSP
5 biomineral tissue development GO:0031214 9.54 BGLAP IBSP
6 mammary gland development GO:0030879 9.52 CYP19A1 PRL
7 regulation of multicellular organism growth GO:0040014 9.49 IGF1 PRL
8 positive regulation of JAK-STAT cascade GO:0046427 9.48 GH1 PRL
9 regulation of bone mineralization GO:0030500 9.46 BGLAP FGF23
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.37 GH1 PRL
11 response to drug GO:0042493 9.35 AMH BGLAP GNAS PRL SST
12 response to nutrient levels GO:0031667 9.33 BGLAP GH1 PRL
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.32 GH1 IGF1
14 cellular response to vitamin D GO:0071305 9.26 BGLAP FGF23
15 regulation of signaling receptor activity GO:0010469 9.1 AMH FGF23 GH1 IGF1 PRL SST

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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