MAS
MCID: MCC012
MIFTS: 70

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 56 74 52 25 58 73 29 13 6 39 71
Mass Syndrome 56 74 52 73 29 13 6 39
Polyostotic Fibrous Dysplasia 12 74 52 25 58 71 32
Fibrous Dysplasia of Bone 12 74 58 43
Mass Phenotype 56 52 36 54
Mas 56 52 25 73
Overlap Connective Tissue Disease 56 52 73
Osteitis Fibrosa Disseminata 12 25 71
Mccune Albright Syndrome 12 52 15
Albright Syndrome 56 52 25
Octd 56 52 73
Fibrous Dysplasia, Polyostotic 36 43
Albright's Syndrome 74 25
Albright's Disease 52 25
Pofd 52 25
Pfd 52 25
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 25
Gonadotropin-Independent Female-Limited Sexual Precocity 58
Albright's Syndrome with Precocious Puberty 25
Mccune-Albright Syndrome, Somatic, Mosaic 56
Overlap Connective Tissue Disease; Octd 56
Albright-Mccune-Sternberg Syndrome 25
Fibrous Dysplasia Polyostotic 54
Albright-Sternberg Syndrome 25
Albright's Disease of Bone 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
somatic mosaicism

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


HPO:

31
mass syndrome:
Inheritance autosomal dominant inheritance

mccune-albright syndrome:
Inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Mccune-Albright Syndrome

Genetics Home Reference : 25 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome. In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body. Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty. Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2. Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.

MalaCards based summary : Mccune-Albright Syndrome, also known as mass syndrome, 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 Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Risedronate and Etidronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related phenotypes are hypophosphatemia and recurrent fractures

Disease Ontology : 12 A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has material basis in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.

NIH Rare Diseases : 52 MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways. MASS is an acronym for features of the disorder that may be present: M itral valve prolapse - a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge (prolapse) upward into the left atrium. A ortic root dilation - borderline, non-progressive enlargement of the section of the aorta where the aorta and heart meet. Unlike in Marfan syndrome , aortic complications such as dissection and aneurysm usually do not occur. However some authors believe there may be an increased risk for aortic complications. S kin striae (stretch marks ) - skin may have stretch marks even without changes in weight. S keletal features - possible features include curvature of the spine (scoliosis ), chest wall deformities , and joint hypermobility . People with MASS phenotype also have nearsightedness (myopia), but they do not experience eye lens dislocation (ectopia lentis) as in Marfan syndrome. MASS phenotype has rarely been diagnosed in people with a mutation in the FBN1 gene (which usually causes Marfan syndrome), but in most cases the cause of MASS phenotype is not yet known. People diagnosed with MASS phenotype who do have a FBN1 mutation may later be diagnosed with Marfan syndrome as additional features develop, which would convey a high risk of aortic complications. It may be hard to distinguish MASS phenotype from early features of Marfan syndrome in young individuals. Management focuses on the specific symptoms and severity in each person. It is important to monitor signs and symptoms over time, such as having annual heart and eye exams. This is especially important for people under 20 years of age who potentially have Marfan syndrome, since additional features may develop with age.

OMIM : 56 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)

KEGG : 36 Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition.

UniProtKB/Swiss-Prot : 73 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.
Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Wikipedia : 74 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 398)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 35.0 PRL GNAS GH1
2 gigantism 33.6 PRL GH1
3 pituitary adenoma 1, multiple types 33.2 SST PRL IGFBP3 IGF1 GH1
4 fibrous dysplasia 32.9 SST PTHLH PRL IGF1 IBSP GNAS
5 precocious puberty 32.8 GNAS GH1 CYP19A1
6 ovarian cyst 32.1 PRL GNAS CYP19A1 AMH
7 hyperthyroidism 31.9 SST PRL IGF1 GNAS GH1 BGLAP
8 central precocious puberty 31.9 IGF1 GH1
9 adenoma 31.8 SST PRL IGF1 GNAS GH1 APC
10 pituitary adenoma 31.7 SST PRL IGF1 GNAS GHR GH1
11 pituitary tumors 31.7 SST PRL IGF1 GNAS GH1
12 goiter 31.6 SST PRL IGF1 GNAS BGLAP
13 hyperprolactinemia 31.5 SST PTHLH PRL IGF1 GNAS GH1
14 conn's syndrome 31.5 SST PRL IGF1 GNAS GH1 BGLAP
15 hypophosphatemia 31.5 SLC34A1 PTHLH FGF23 BGLAP
16 acromegaly 31.4 SST PRL IGFBP3 IGF1 GNAS GHR
17 rickets 31.4 SLC34A1 IBSP FGF23 BGLAP
18 carney complex variant 31.4 SST PRL IGF1 GNAS
19 chromophobe adenoma 31.3 PRL GH1
20 hyperparathyroidism 31.3 SOST PTHLH IGF1 FGF23 BGLAP
21 galactorrhea 31.2 PRL IGF1
22 hormone producing pituitary cancer 31.2 SST PRL IGF1 GNAS
23 growth hormone secreting pituitary adenoma 31.2 SST PRL IGF1 GNAS
24 osteogenic sarcoma 31.1 PTHLH IGF1 IBSP BGLAP
25 amenorrhea 31.1 PRL IGF1 CYP19A1 BGLAP
26 scoliosis 31.0 IGF1 GHR GH1 FBN1 BGLAP
27 osteonecrosis 31.0 LRP5 IGF1 BGLAP
28 leydig cell tumor 31.0 PTHLH GNAS CYP19A1
29 osteitis fibrosa 30.9 SOST GNAS FGF23 BGLAP
30 insulin-like growth factor i 30.9 PRL IGFBP3 IGF1 GHR GH1 BGLAP
31 peutz-jeghers syndrome 30.9 GNAS CYP19A1 APC
32 lipoid congenital adrenal hyperplasia 30.9 PRL CYP19A1 AMH
33 ovarian disease 30.9 PRL IGF1 GH1 CYP19A1 AMH
34 primary hyperparathyroidism 30.8 SOST PTHLH PRL IGF1 FGF23 BGLAP
35 parathyroid adenoma 30.8 PTHLH IGF1 GNAS BGLAP
36 hyperandrogenism 30.7 PRL IGFBP3 IGF1 GH1 CYP19A1
37 oncogenic osteomalacia 30.7 PTHLH FGF23
38 empty sella syndrome 30.7 PRL IGFBP3 IGF1 GH1
39 pseudohypoparathyroidism 30.7 PTHLH PRL IGF1 GNAS BGLAP APC
40 hydrocephalus 30.7 SST PRL IGFBP3 IGF1
41 anovulation 30.6 PRL IGFBP3 IGF1 CYP19A1 AMH
42 paget's disease of bone 30.6 SOST IBSP BGLAP
43 premature ovarian failure 1 30.6 PRL IGFBP3 IGF1 CYP19A1 AMH
44 pituitary apoplexy 30.6 SST PRL IGF1 GH1
45 hyperinsulinism 30.6 SST IGFBP3 IGF1 GHR GH1
46 pituitary adenoma, prolactin-secreting 30.5 SST PTHLH PRL IGF1 GNAS GH1
47 hypopituitarism 30.5 PRL IGFBP3 IGF1 GHR GH1 BGLAP
48 osteomalacia 30.4 SOST SLC34A1 PTHLH FGF23 BGLAP
49 bone disease 30.3 SOST PTHLH LRP5 IGF1 IBSP FGF23
50 pituitary gland disease 30.3 SST PRL IGFBP3 IGF1 GNAS GHR

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



Diseases related to Mccune-Albright Syndrome

Symptoms & Phenotypes for Mccune-Albright Syndrome

Human phenotypes related to Mccune-Albright Syndrome:

58 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 31 hallmark (90%) Very rare (<4-1%) HP:0002148
2 recurrent fractures 58 31 hallmark (90%) Occasional (29-5%) HP:0002757
3 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
4 bone pain 58 31 hallmark (90%) Occasional (29-5%) HP:0002653
5 skeletal dysplasia 31 hallmark (90%) HP:0002652
6 reduced bone mineral density 31 hallmark (90%) HP:0004349
7 multiple cafe-au-lait spots 31 hallmark (90%) HP:0007565
8 generalized hyperpigmentation 31 hallmark (90%) HP:0007440
9 macroorchidism 58 31 occasional (7.5%) Frequent (79-30%) HP:0000053
10 hyperthyroidism 58 31 occasional (7.5%) Frequent (79-30%) HP:0000836
11 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
12 increased circulating cortisol level 58 31 occasional (7.5%) Very rare (<4-1%) HP:0003118
13 kyphosis 31 occasional (7.5%) HP:0002808
14 open bite 31 occasional (7.5%) HP:0010807
15 macrocephaly 31 occasional (7.5%) HP:0000256
16 mandibular prognathia 31 occasional (7.5%) HP:0000303
17 carious teeth 31 occasional (7.5%) HP:0000670
18 optic atrophy 31 occasional (7.5%) HP:0000648
19 hearing abnormality 31 occasional (7.5%) HP:0000364
20 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
21 sarcoma 31 occasional (7.5%) HP:0100242
22 polycystic ovaries 31 occasional (7.5%) HP:0000147
23 abnormality of vision 31 occasional (7.5%) HP:0000504
24 abnormality of dental enamel 31 occasional (7.5%) HP:0000682
25 hyperparathyroidism 31 occasional (7.5%) HP:0000843
26 prolonged bleeding time 31 occasional (7.5%) HP:0003010
27 tall stature 31 occasional (7.5%) HP:0000098
28 neoplasm of the thyroid gland 31 occasional (7.5%) HP:0100031
29 abnormal palate morphology 31 occasional (7.5%) HP:0000174
30 long penis 31 occasional (7.5%) HP:0000040
31 testicular neoplasm 31 occasional (7.5%) HP:0010788
32 neoplasm of the breast 31 occasional (7.5%) HP:0100013
33 hearing impairment 58 31 Occasional (29-5%) HP:0000365
34 facial asymmetry 58 31 Occasional (29-5%) HP:0000324
35 growth hormone excess 58 31 Occasional (29-5%) HP:0000845
36 increased circulating prolactin concentration 58 31 Occasional (29-5%) HP:0000870
37 large cafe-au-lait macules with irregular margins 58 31 Very frequent (99-80%) HP:0005605
38 polyostotic fibrous dysplasia 58 31 Occasional (29-5%) HP:0010735
39 craniofacial hyperostosis 31 HP:0004493
40 scoliosis 58 Frequent (79-30%)
41 dental malocclusion 58 Occasional (29-5%)
42 blindness 31 HP:0000618
43 gastroesophageal reflux 58 Occasional (29-5%)
44 renal tubular dysfunction 58 Frequent (79-30%)
45 hepatitis 58 Very rare (<4-1%)
46 mitral valve prolapse 31 HP:0001634
47 abnormality of femur morphology 58 Frequent (79-30%)
48 abnormality of the face 58 Occasional (29-5%)
49 striae distensae 31 HP:0001065
50 disproportionate tall stature 31 HP:0001519

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
craniofacial hyperostosis
cranial foramen impingement

Head And Neck Face:
facial asymmetry

Skeletal:
pathologic fracture
polyostotic fibrous dysplasia

Head And Neck Ears:
deafness

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

Head And Neck Eyes:
blindness

Endocrine Features:
hyperparathyroidism
hyperthyroidism
precocious puberty
acromegaly
cushing syndrome
more
Neoplasia:
pituitary adenoma

Abdomen Gastrointestinal:
gastrointestinal polyps

Clinical features from OMIM:

174800 604308

GenomeRNAi Phenotypes related to Mccune-Albright Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.4 SST
2 Decreased viability GR00249-S 9.4 APC GH1 IGFBP3 SOST
3 Decreased viability GR00381-A-1 9.4 GNAS
4 Decreased viability GR00386-A-1 9.4 ADCY1 GNAS IBSP
5 Decreased viability GR00402-S-2 9.4 DIO2 FBN1 IGFBP3

MGI Mouse Phenotypes related to Mccune-Albright Syndrome:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 ADCY1 AMH APC BGLAP CYP19A1 DIO2
2 growth/size/body region MP:0005378 10.4 APC CYP19A1 DIO2 FBN1 FGF23 GHR
3 endocrine/exocrine gland MP:0005379 10.38 AMH APC BGLAP CYP19A1 DIO2 FBN1
4 behavior/neurological MP:0005386 10.35 ADCY1 APC CYP19A1 FBN1 GHR GNAS
5 adipose tissue MP:0005375 10.32 ADCY1 APC BGLAP CYP19A1 DIO2 FBN1
6 immune system MP:0005387 10.32 ADCY1 APC BGLAP CYP19A1 FBN1 FGF23
7 cellular MP:0005384 10.29 APC BGLAP CYP19A1 FBN1 GHR GNAS
8 hematopoietic system MP:0005397 10.29 ADCY1 APC BGLAP CYP19A1 FBN1 FGF23
9 cardiovascular system MP:0005385 10.26 APC CYP19A1 FBN1 FGF23 GHR GNAS
10 integument MP:0010771 10.2 ADCY1 APC CYP19A1 FBN1 FGF23 GHR
11 limbs/digits/tail MP:0005371 10.17 APC FBN1 FGF23 GHR GNAS IBSP
12 nervous system MP:0003631 10.1 ADCY1 APC CYP19A1 FBN1 GHR GNAS
13 liver/biliary system MP:0005370 10.01 APC CYP19A1 GHR GNAS IGFBP3 LRP5
14 muscle MP:0005369 9.97 APC CYP19A1 FBN1 GHR GNAS IGF1
15 renal/urinary system MP:0005367 9.85 APC CYP19A1 DIO2 FBN1 FGF23 GHR
16 pigmentation MP:0001186 9.73 ADCY1 APC CYP19A1 FBN1 IGFBP3 LRP5
17 reproductive system MP:0005389 9.7 AMH APC BGLAP CYP19A1 FBN1 FGF23
18 skeleton MP:0005390 9.53 APC BGLAP CYP19A1 DIO2 FBN1 FGF23

Drugs & Therapeutics for Mccune-Albright Syndrome

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronate Approved, Investigational Phase 2, Phase 3 105462-24-6 5245
2
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
3 Calcium, Dietary Phase 2, Phase 3
4 calcium channel blockers Phase 2, Phase 3
5 Hormones Phase 3
6
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
7
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
8
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
9
Testolactone Approved, Investigational Phase 2 968-93-4 13769
10
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
11
Spironolactone Approved Phase 2 52-01-7, 1952-01-7 5833
12
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
13
Denosumab Approved Phase 2 615258-40-7
14
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
15 Aromatase Inhibitors Phase 2
16 Mineralocorticoids Phase 2
17 Mineralocorticoid Receptor Antagonists Phase 2
18 diuretics Phase 2
19 Diuretics, Potassium Sparing Phase 2
20 Antineoplastic Agents, Hormonal Phase 2
21 Hormone Antagonists Phase 2
22 Estrogen Antagonists Phase 2
23 Estrogen Receptor Antagonists Phase 2
24 Estrogens Phase 2
25
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
26
Zoledronic Acid Approved 118072-93-8 68740
27
Histamine Approved, Investigational 51-45-6 774
28
Histamine Phosphate 51-74-1 65513
29 Diphosphonates
30 Fluorodeoxyglucose F18
31 Radiopharmaceuticals

Interventional clinical trials:

(show all 28)
# 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 An Open-label Study Evaluating the Safety and Efficacy of Anastrozole™ (ARIMIDEX) in the Treatment of Precocious Puberty in Girls With McCune-Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
4 A Randomized, Placebo-Controlled Trial of Alendronate in the Treatment of Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
5 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of Mccune-Albright Syndrome Completed NCT02743377 Phase 1, Phase 2 PET
6 Testolactone Treatment of Girls With LHRH Analog-Resistant Precocious Puberty Due to Autonomous, Non-Neoplastic Ovarian Estrogen Secretion Completed NCT00001181 Phase 2 Testolactone
7 TREATMENT OF FIBROUS DYSPLASIA OF BONE WITH TOCILIZUMAB AMONG PATIENTS WHO DO NOT RESPOND TO BISPHOSPHONATES. THE TOCIDYS TRIAL. Completed NCT01791842 Phase 2 Tocilizumab;Placebo
8 Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
9 An Open-label, Non-Comparative Trial to Evaluate the Safety, Efficacy and Pharmacokinetics of Faslodex (Fulvestrant) in Girls With Progressive Precocious Puberty Associated With McCune-Albright Syndrome Active, not recruiting NCT00278915 Phase 2 Fulvestrant
10 An Open Label Pilot Study of Denosumab Treatment for Fibrous Dysplasia Enrolling by invitation NCT03571191 Phase 2 Denosumab
11 Effects of the Aromatase Inhibitor Letrozole on Pubertal Progression and Indices of Bone Turnover in Girls With Precocious Puberty and McCune-Albright Syndrome (MAS) Completed NCT00006174 Phase 1 Letrozole
12 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
13 Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey Unknown status NCT01902420
14 Studies on Tissues From Patients With Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues Completed NCT00001973
15 Evaluation and Treatment to Improve Bone Quality and Prevent Fractures by the Percutaneous Replacement of Diseased Tissue in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
16 Histamine Responsiveness in Patients With McCune-Albright Syndrome Completed NCT00318097
17 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Completed NCT02868645
18 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
19 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5 Completed NCT01199094
20 Impact of Preterm Body Composition at Discharge on 2 Years Neurological Development (ASQ Evaluation) Completed NCT01450436
21 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome Recruiting NCT00001727
22 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
23 Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study. Recruiting NCT03838991
24 Computer Guided Contouring of Craniofacial Fibrous Dysplasia Involving Zygoma: a Case Series Recruiting NCT03852927
25 Elucidating Mechanisms of Pain in Adolescent and Adult Fibrous Dysplasia Patients Not yet recruiting NCT04125862
26 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450
27 Multicenter RCT Comparing Two Brushes of Different Diameters for Biliary Stenosis: RX Cytology Brush, BOSTON vs. Infinity® Brush, US Endoscopy. BIB Study (BIliary Brushing) Not yet recruiting NCT04251013
28 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Withdrawn 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 Mass Syndrome 29 FBN1
2 Mccune-Albright Syndrome 29 GNAS

Anatomical Context for Mccune-Albright Syndrome

MalaCards organs/tissues related to Mccune-Albright Syndrome:

40
Bone, Skin, Pituitary, Heart, Thyroid, Brain, Ovary

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 921)
# Title Authors PMID Year
1
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 6 56 61
12970318 2003
2
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 6 56 61
7739708 1995
3
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 6 56 61
1594625 1992
4
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 61 56 6
1944469 1991
5
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 6 61 56
3720010 1986
6
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. 54 56 61
10646121 2000
7
Fibrous Dysplasia/McCune-Albright Syndrome 61 6
25719192 2015
8
Gastrointestinal polyps in McCune Albright syndrome. 61 56
21357941 2011
9
The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. 61 56
18397987 2008
10
Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. 61 56
17405850 2007
11
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 61 56
15126527 2004
12
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. 56 61
15001590 2004
13
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 6 61
12727968 2003
14
Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. 61 56
12414879 2002
15
McCune-Albright syndrome: growth hormone dynamics in pregnancy. 61 56
11397839 2001
16
Dynamics of ovarian function in an adult woman with McCune--Albright syndrome. 61 56
11397863 2001
17
Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. 56 61
11297617 2001
18
McCune-Albright syndrome: a longitudinal clinical study of 32 patients. 56 61
10614538 1999
19
A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 61 6
10571700 1999
20
Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome. 56 61
10530562 1999
21
Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. 61 56
10356155 1999
22
McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. 61 56
10190480 1999
23
Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. 56 61
9541505 1998
24
Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. 61 56
9226216 1997
25
McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases. 56 61
7921205 1994
26
An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. 56 61
8126161 1994
27
Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results. 61 56
1400888 1992
28
Acromegaly and its treatment in the McCune-Albright syndrome. 56 61
1424186 1992
29
Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome. 61 56
1955519 1991
30
Monozygotic twins discordant for the major signs of McCune-Albright syndrome. 56 61
1838461 1991
31
A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. 56 61
1755313 1991
32
Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome. 61 56
2273209 1990
33
Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome). 61 56
3398893 1988
34
Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. 56 61
3093862 1986
35
Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome. 61 56
6434946 1984
36
McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. 61 56
340627 1978
37
Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome. 56 61
200724 1977
38
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
39
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
40
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 6
16507630 2006
41
Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. 56
14557424 2003
42
Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia. 56
10507737 1999
43
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 6
9837823 1998
44
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 6
9626141 1998
45
"A rare disorder, yes; an unimportant one, never". 56
9541481 1998
46
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 6
8766942 1996
47
Revised diagnostic criteria for the Marfan syndrome. 6
8723076 1996
48
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. 6
7751320 1995
49
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 6
1569206 1992
50
Tegernsee giant. 56
1346061 1992

Variations for Mccune-Albright Syndrome

ClinVar genetic disease variations for Mccune-Albright Syndrome:

6 (show top 50) (show all 227) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.2506del (p.Ser836fs)deletion Pathogenic 560217 rs1566911709 15:48787699-48787699 15:48495502-48495502
2 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
3 GNAS NM_001077488.4(GNAS):c.683A>G (p.Gln228Arg)SNV Pathogenic 15935 rs121913494 20:57484596-57484596 20:58909541-58909541
4 GNAS NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser)SNV Pathogenic 15937 rs11554273 20:57484420-57484420 20:58909365-58909365
5 GNAS NM_001077488.4(GNAS):c.604C>G (p.Arg202Gly)SNV Pathogenic 15945 rs11554273 20:57484420-57484420 20:58909365-58909365
6 FBN1 NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs)duplication Pathogenic 16434 rs1131692049 15:48755365-48755366 15:48463168-48463169
7 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
8 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
9 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
10 GNAS NM_001077488.4(GNAS):c.682C>A (p.Gln228Lys)SNV Pathogenic 210046 rs797045203 20:57484595-57484595 20:58909540-58909540
11 GNAS NM_001077488.4(GNAS):c.684G>T (p.Gln228His)SNV Pathogenic 210048 rs137854533 20:57484597-57484597 20:58909542-58909542
12 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
13 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
14 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
15 GNAS NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu)SNV Pathogenic/Likely pathogenic 210045 rs121913495 20:57484421-57484421 20:58909366-58909366
16 GNAS NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu)SNV Pathogenic/Likely pathogenic 210047 rs121913494 20:57484596-57484596 20:58909541-58909541
17 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
18 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
19 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
20 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
21 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
22 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
23 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
24 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
25 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
26 GNAS NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys)SNV Pathogenic/Likely pathogenic 15933 rs11554273 20:57484420-57484420 20:58909365-58909365
27 GNAS NM_001077488.4(GNAS):c.605G>A (p.Arg202His)SNV Pathogenic/Likely pathogenic 15934 rs121913495 20:57484421-57484421 20:58909366-58909366
28 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
29 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
30 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
31 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
32 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
33 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
34 FBN1 NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly)indel Likely pathogenic 617942 rs1566903931 15:48757816-48757817 15:48465619-48465620
35 GNAS NM_001077488.4(GNAS):c.1146_1148CAT[1] (p.Ile384del)short repeat Likely pathogenic 623189 rs1569032751 20:57485842-57485844 20:58910787-58910789
36 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
37 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
38 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
39 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)SNV Conflicting interpretations of pathogenicity 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
40 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977
41 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104
42 FBN1 NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
43 FBN1 NM_000138.5(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
44 FBN1 NM_000138.5(FBN1):c.2895G>A (p.Glu965=)SNV Conflicting interpretations of pathogenicity 42320 rs140591 15:48782235-48782235 15:48490038-48490038
45 FBN1 NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
46 FBN1 NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)SNV Conflicting interpretations of pathogenicity 42335 rs140396599 15:48779549-48779549 15:48487352-48487352
47 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
48 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
49 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
50 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856

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

73
# 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

Copy number variations for Mccune-Albright Syndrome from CNVD:

7
# CNVD ID Chromosome 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 region GO:0005576 9.8 SST SOST PTHLH PRL IGFBP3 IGF1
2 endoplasmic reticulum lumen GO:0005788 9.71 IGFBP3 FGF23 FBN1 BGLAP
3 extracellular space GO:0005615 9.44 SST SOST PTHLH PRL IGFBP3 IGF1
4 Wnt signalosome GO:1990909 9.37 LRP5 APC
5 insulin-like growth factor ternary complex GO:0042567 9.32 IGFBP3 IGF1
6 insulin-like growth factor binding protein complex GO:0016942 9.26 IGFBP3 IGF1
7 growth hormone receptor complex GO:0070195 9.16 GHR GH1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.8 GNAS DIO2 APC
2 female pregnancy GO:0007565 9.79 PTHLH PRL GNAS
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 IGF1 GHR GH1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 IGF1 GHR GH1
5 response to nutrient levels GO:0031667 9.75 PRL GH1 BGLAP
6 positive regulation of osteoblast differentiation GO:0045669 9.73 LRP5 IGF1 GNAS
7 ossification GO:0001503 9.73 SOST SLC34A1 IBSP BGLAP
8 bone development GO:0060348 9.72 LRP5 GNAS BGLAP
9 response to peptide hormone GO:0043434 9.71 SLC34A1 LRP5 GHR
10 bone mineralization GO:0030282 9.67 PTHLH IBSP BGLAP
11 positive regulation of JAK-STAT cascade GO:0046427 9.65 PRL GHR GH1
12 skeletal system development GO:0001501 9.65 PTHLH IGF1 GNAS FBN1 BGLAP
13 response to growth hormone GO:0060416 9.63 SLC34A1 GHR
14 regulation of multicellular organism growth GO:0040014 9.63 PRL IGF1 GHR
15 response to drug GO:0042493 9.63 SST SLC34A1 GNAS BGLAP AMH ADCY1
16 cellular response to vitamin D GO:0071305 9.62 FGF23 BGLAP
17 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 IGF1 GHR
18 response to magnesium ion GO:0032026 9.6 SLC34A1 FGF23
19 growth hormone receptor signaling pathway GO:0060396 9.59 GHR GH1
20 osteoblast development GO:0002076 9.58 PTHLH LRP5 BGLAP
21 cellular phosphate ion homeostasis GO:0030643 9.57 SLC34A1 FGF23
22 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.54 PRL GHR GH1
23 phosphate ion homeostasis GO:0055062 9.52 SLC34A1 FGF23
24 response to parathyroid hormone GO:0071107 9.51 SLC34A1 GNAS
25 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.5 IGFBP3 IGF1 GH1
26 cellular response to parathyroid hormone stimulus GO:0071374 9.13 SOST SLC34A1 FGF23
27 cellular protein metabolic process GO:0044267 9.1 SLC34A1 PRL IGFBP3 IGF1 FGF23 FBN1

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 IGF1 GH1 FGF23 AMH
2 insulin-like growth factor receptor binding GO:0005159 9.26 IGF1 GNAS
3 hormone activity GO:0005179 9.17 SST PTHLH PRL IGF1 GH1 FBN1
4 prolactin receptor binding GO:0005148 8.96 PRL GH1

Sources for Mccune-Albright Syndrome

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44 MESH via Orphanet
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