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 57 74 20 43 58 73 29 13 6 39 71
Mass Syndrome 57 74 20 73 29 13 6 39
Polyostotic Fibrous Dysplasia 12 74 20 43 58 71 32
Mass Phenotype 57 20 36 54
Mas 57 20 43 73
Overlap Connective Tissue Disease 57 20 73
Osteitis Fibrosa Disseminata 12 43 71
Fibrous Dysplasia of Bone 12 74 58
Mccune Albright Syndrome 12 20 15
Albright Syndrome 57 20 43
Octd 57 20 73
Albright's Syndrome 74 43
Albright's Disease 20 43
Pofd 20 43
Pfd 20 43
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 43
Gonadotropin-Independent Female-Limited Sexual Precocity 58
Albright's Syndrome with Precocious Puberty 43
Mccune-Albright Syndrome, Somatic, Mosaic 57
Overlap Connective Tissue Disease; Octd 57
Albright-Mccune-Sternberg Syndrome 43
Fibrous Dysplasia, Polyostotic 36
Fibrous Dysplasia Polyostotic 54
Albright-Sternberg Syndrome 43
Albright's Disease of Bone 43

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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 Etidronic acid and Risedronate have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and heart, and related phenotypes are precocious puberty and ovarian cyst

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.

GARD : 20 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: Mitral 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. Aortic 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. Skin striae (stretch marks) - skin may have stretch marks even without changes in weight. Skeletal 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® : 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) (Updated 05-Mar-2021)

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 409)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 33.0 PRL GNAS GH1
2 gigantism 32.6 PRL GH1
3 pituitary adenoma 1, multiple types 32.1 SST PRL IGFBP3 IGF1 GH1
4 fibrous dysplasia 32.1 SST PTHLH PRL IGF1 IBSP GNAS
5 ovarian cyst 31.9 PRL GNAS CYP19A1
6 hyperthyroidism 31.6 SST PRL IGF1 GNAS GH1 BGLAP
7 pituitary adenoma 31.5 SST PRL IGF1 GNAS GHR GH1
8 hyperparathyroidism 31.4 PTHLH FGF23 BGLAP
9 adenoma 31.4 SST PRL IGF1 GNAS GH1 APC
10 acromegaly 31.4 SST PRL IGFBP3 IGF1 GNAS GHR
11 central precocious puberty 31.4 IGFBP3 IGF1 GH1
12 pituitary tumors 31.3 SST PRL IGF1 GNAS GH1
13 goiter 31.3 SST PRL IGF1 GNAS BGLAP
14 hyperprolactinemia 31.2 SST PTHLH PRL IGF1 GNAS GH1
15 hypophosphatemia 31.2 SLC34A1 PTHLH FGF23 BGLAP
16 rickets 31.2 SLC34A1 IBSP FGF23 BGLAP
17 osteogenic sarcoma 31.0 PTHLH IGF1 IBSP BGLAP
18 carney complex variant 31.0 SST PRL IGF1 GNAS
19 chromophobe adenoma 31.0 PRL GH1
20 growth hormone secreting pituitary adenoma 30.9 SST PRL IGF1 GNAS
21 osteitis fibrosa 30.9 GNAS FGF23 BGLAP
22 conn's syndrome 30.8 SST PRL IGF1 GNAS GH1 BGLAP
23 hormone producing pituitary cancer 30.8 SST PRL IGF1 GNAS
24 scoliosis 30.8 IGF1 GHR GH1 FBN1 BGLAP
25 galactorrhea 30.8 PRL IGF1
26 amenorrhea 30.8 PRL IGF1 CYP19A1 BGLAP
27 oncogenic osteomalacia 30.7 PTHLH FGF23
28 osteonecrosis 30.6 LRP5 IGF1 BGLAP
29 ovarian disease 30.6 PRL IGF1 GH1 CYP19A1 AMH
30 leydig cell tumor 30.5 PTHLH PRL GNAS CYP19A1
31 insulin-like growth factor i 30.5 SST PRL IGFBP3 IGF1 GHR GH1
32 empty sella syndrome 30.5 PRL IGFBP3 IGF1 GH1
33 hyperandrogenism 30.5 PRL IGFBP3 IGF1 CYP19A1
34 primary hyperparathyroidism 30.5 SOST PTHLH PRL IGF1 GNAS FGF23
35 parathyroid adenoma 30.5 PTHLH IGF1 GNAS BGLAP
36 pseudohypoparathyroidism 30.5 PTHLH PRL IGF1 GNAS BGLAP APC
37 pituitary apoplexy 30.4 SST PRL IGF1 GH1
38 hypopituitarism 30.4 PRL IGFBP3 IGF1 GHR GH1
39 anovulation 30.3 PRL IGFBP3 IGF1 CYP19A1 AMH
40 premature menopause 30.3 PRL IGF1 CYP19A1 BGLAP AMH
41 pituitary adenoma, prolactin-secreting 30.3 SST PTHLH PRL IGF1 GNAS GH1
42 bone disease 30.3 SOST PTHLH LRP5 IGF1 IBSP FGF23
43 type 1 diabetes mellitus 30.2 SST LRP5 IGFBP3 IGF1 GH1 BGLAP
44 hyperostosis 30.2 SOST LRP5 IGF1 FGF23
45 paget's disease of bone 30.2 SOST PTHLH IBSP BGLAP
46 hypervitaminosis d 30.2 PTHLH FGF23
47 osteomalacia 30.1 SOST SLC34A1 PTHLH FGF23 BGLAP
48 pituitary gland disease 30.1 SST PRL IGFBP3 IGF1 GNAS GHR
49 hypophosphatemic rickets, x-linked dominant 30.1 SOST SLC34A1 IBSP FGF23 BGLAP
50 hyperinsulinism 30.1 SST IGFBP3 IGF1 GHR GH1

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 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
2 ovarian cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0000138
3 large cafe-au-lait macules with irregular margins 58 31 hallmark (90%) Very frequent (99-80%) HP:0005605
4 abnormal endocrine physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0031072
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 macroorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000053
7 renal tubular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0000124
8 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
9 hyperthyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000836
10 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
11 increased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0030088
12 abnormality of the skull base 58 31 frequent (33%) Frequent (79-30%) HP:0002693
13 abnormality of facial skeleton 58 31 frequent (33%) Frequent (79-30%) HP:0011821
14 growth abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0001507
15 monostotic fibrous dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010736
16 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
17 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
18 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
19 decreased fertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000144
20 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
21 osteomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002749
22 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
23 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
24 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
25 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
26 growth hormone excess 58 31 occasional (7.5%) Occasional (29-5%) HP:0000845
27 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
28 irregular menstruation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000858
29 bone fracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0020110
30 increased circulating prolactin concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000870
31 hepatocellular adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012028
32 renal phosphate wasting 58 31 occasional (7.5%) Occasional (29-5%) HP:0000117
33 nasal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001742
34 hyperplasia of the leydig cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0010791
35 benign gastrointestinal tract tumors 58 31 occasional (7.5%) Occasional (29-5%) HP:0006719
36 inappropriate sexual behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0008768
37 polyostotic fibrous dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010735
38 hypophosphatemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002148
39 hepatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0012115
40 breast carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0003002
41 cholestasis 58 31 very rare (1%) Very rare (<4-1%) HP:0001396
42 bone marrow hypocellularity 58 31 very rare (1%) Very rare (<4-1%) HP:0005528
43 visual loss 58 31 very rare (1%) Very rare (<4-1%) HP:0000572
44 pancytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001876
45 hyperphosphaturia 58 31 very rare (1%) Very rare (<4-1%) HP:0003109
46 primary hypercortisolism 58 31 very rare (1%) Very rare (<4-1%) HP:0001579
47 aneurysmal bone cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0012063
48 cutaneous myxoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030428
49 increased circulating cortisol level 58 31 Very rare (<4-1%) HP:0003118
50 craniofacial hyperostosis 31 HP:0004493

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endocrine Features:
precocious puberty
hyperparathyroidism
hyperthyroidism
acromegaly
cushing syndrome
more
Head And Neck Eyes:
blindness

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 Head:
craniofacial hyperostosis
cranial foramen impingement

Head And Neck Face:
facial asymmetry

Neoplasia:
pituitary adenoma

Abdomen Gastrointestinal:
gastrointestinal polyps

Clinical features from OMIM®:

174800 604308 (Updated 05-Mar-2021)

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:

46 (show all 17)
# 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 10.34 ADCY1 APC CYP19A1 FBN1 GHR GNAS
5 immune system MP:0005387 10.32 ADCY1 APC BGLAP CYP19A1 FBN1 FGF23
6 adipose tissue MP:0005375 10.31 APC BGLAP CYP19A1 DIO2 FBN1 GHR
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 integument MP:0010771 10.2 ADCY1 APC CYP19A1 FBN1 FGF23 GHR
10 limbs/digits/tail MP:0005371 10.17 APC FBN1 FGF23 GHR GNAS IBSP
11 nervous system MP:0003631 10.1 ADCY1 APC CYP19A1 FBN1 GHR GNAS
12 liver/biliary system MP:0005370 10.01 APC CYP19A1 GHR GNAS IGFBP3 LRP5
13 muscle MP:0005369 9.97 APC CYP19A1 FBN1 GHR GNAS IGF1
14 renal/urinary system MP:0005367 9.85 APC CYP19A1 DIO2 FBN1 FGF23 GHR
15 pigmentation MP:0001186 9.73 ADCY1 APC CYP19A1 FBN1 IGFBP3 LRP5
16 reproductive system MP:0005389 9.7 AMH APC BGLAP CYP19A1 FBN1 FGF23
17 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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
2
Risedronate Approved, Investigational Phase 2, Phase 3 105462-24-6 5245
3 Diphosphonates Phase 2, Phase 3
4 Calcium, Dietary Phase 2, Phase 3
5 calcium channel blockers Phase 2, Phase 3
6
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
7
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
8
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
9
Testolactone Approved, Investigational Phase 2 968-93-4 13769
10
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
11
Denosumab Approved Phase 2 615258-40-7
12
Rolipram Investigational Phase 1, Phase 2 61413-54-5
13 Aromatase Inhibitors Phase 2
14 Phosphodiesterase Inhibitors Phase 1, Phase 2
15 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
16 Psychotropic Drugs Phase 1, Phase 2
17 Antidepressive Agents Phase 1, Phase 2
18 Hormone Antagonists Phase 2
19 Estrogens Phase 2
20 Estrogen Receptor Antagonists Phase 2
21 Hormones Phase 2
22 Estrogen Antagonists Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
25
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
26
Histamine Phosphate 51-74-1 65513
27 Radiopharmaceuticals
28 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 21)
# 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 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)
4 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
5 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
6 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of Mccune-Albright Syndrome Completed NCT02743377 Phase 1, Phase 2 Whole Body PET Baseline with 11C Rolipram;Whole Body PET Blocked with Roflumilast
7 Testolactone Treatment of Girls With LHRH Analog-Resistant Precocious Puberty Due to Autonomous, Non-Neoplastic Ovarian Estrogen Secretion Completed NCT00001181 Phase 2 Testolactone
8 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
9 An Open Label Pilot Study of Denosumab Treatment for Fibrous Dysplasia Enrolling by invitation NCT03571191 Phase 2 Denosumab
10 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
11 Computer Guided Contouring of Craniofacial Fibrous Dysplasia Involving Zygoma: a Case Series Unknown status NCT03852927
12 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
13 Studies on Tissues From Patients With Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues Completed NCT00001973
14 Histamine Responsiveness in Patients With McCune-Albright Syndrome Completed NCT00318097
15 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Completed NCT02868645
16 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome Recruiting NCT00001727
17 Elucidating Mechanisms of Pain in Adolescent and Adult Fibrous Dysplasia Patients Recruiting NCT04125862
18 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
19 Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study. Recruiting NCT03838991
20 Autotaxin in Patients With GNAS/PTH Abnormalities Not yet recruiting NCT04671719
21 Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome Withdrawn NCT03520153

Search NIH Clinical Center for Mccune-Albright Syndrome

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, Pituitary, Heart, Thyroid, Eye, Skin, Breast

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 941)
# Title Authors PMID Year
1
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 61 6 57
12970318 2003
2
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 57 6 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. 61 6 57
1594625 1992
4
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 57 6 61
1944469 1991
5
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 61 6 57
3720010 1986
6
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. 57 54 61
10646121 2000
7
Gastrointestinal polyps in McCune Albright syndrome. 57 61
21357941 2011
8
The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. 57 61
18397987 2008
9
Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. 61 57
17405850 2007
10
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 57 61
15126527 2004
11
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. 61 57
15001590 2004
12
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 6 61
12727968 2003
13
Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. 61 57
12414879 2002
14
McCune-Albright syndrome: growth hormone dynamics in pregnancy. 57 61
11397839 2001
15
Dynamics of ovarian function in an adult woman with McCune--Albright syndrome. 57 61
11397863 2001
16
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. 61 57
11297617 2001
17
McCune-Albright syndrome: a longitudinal clinical study of 32 patients. 61 57
10614538 1999
18
A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 6 61
10571700 1999
19
Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome. 57 61
10530562 1999
20
Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. 57 61
10356155 1999
21
McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. 57 61
10190480 1999
22
Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. 57 61
9541505 1998
23
Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. 61 57
9226216 1997
24
McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases. 61 57
7921205 1994
25
An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. 57 61
8126161 1994
26
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 57
1400888 1992
27
Acromegaly and its treatment in the McCune-Albright syndrome. 57 61
1424186 1992
28
Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome. 57 61
1955519 1991
29
Monozygotic twins discordant for the major signs of McCune-Albright syndrome. 57 61
1838461 1991
30
A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. 61 57
1755313 1991
31
Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome. 57 61
2273209 1990
32
Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome). 61 57
3398893 1988
33
Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. 57 61
3093862 1986
34
Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome. 61 57
6434946 1984
35
McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. 57 61
340627 1978
36
Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome. 57 61
200724 1977
37
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
38
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 6
16507630 2006
39
Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. 57
14557424 2003
40
Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia. 57
10507737 1999
41
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 6
9837823 1998
42
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 6
9626141 1998
43
"A rare disorder, yes; an unimportant one, never". 57
9541481 1998
44
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 6
8766942 1996
45
Revised diagnostic criteria for the Marfan syndrome. 6
8723076 1996
46
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. 6
7751320 1995
47
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 6
1569206 1992
48
Tegernsee giant. 57
1346061 1992
49
DNA light on the Tegernsee giant. 57
1683435 1991
50
Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. 57
1681239 1991

Variations for Mccune-Albright Syndrome

ClinVar genetic disease variations for Mccune-Albright Syndrome:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs) Duplication Pathogenic 16434 rs1131692049 15:48755365-48755366 15:48463168-48463169
2 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Pathogenic 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
3 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
4 FBN1 NM_000138.4(FBN1):c.2506del (p.Ser836fs) Deletion Pathogenic 560217 rs1566911709 15:48787699-48787699 15:48495502-48495502
5 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
6 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
7 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
8 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
9 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
10 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
11 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
12 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
13 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
14 GNAS NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) SNV Pathogenic 15933 rs11554273 20:57484420-57484420 20:58909365-58909365
15 GNAS NM_000516.6(GNAS):c.602G>A (p.Arg201His) SNV Pathogenic 15934 rs121913495 20:57484421-57484421 20:58909366-58909366
16 GNAS NM_000516.6(GNAS):c.601C>G (p.Arg201Gly) SNV Pathogenic 15945 rs11554273 20:57484420-57484420 20:58909365-58909365
17 GNAS NM_000516.6(GNAS):c.601C>A (p.Arg201Ser) SNV Pathogenic 15937 rs11554273 20:57484420-57484420 20:58909365-58909365
18 GNAS NM_000516.6(GNAS):c.602G>T (p.Arg201Leu) SNV Pathogenic 210045 rs121913495 20:57484421-57484421 20:58909366-58909366
19 GNAS NM_000516.6(GNAS):c.679C>A (p.Gln227Lys) SNV Pathogenic 210046 rs797045203 20:57484595-57484595 20:58909540-58909540
20 GNAS NM_000516.6(GNAS):c.680A>T (p.Gln227Leu) SNV Pathogenic 210047 rs121913494 20:57484596-57484596 20:58909541-58909541
21 GNAS NM_000516.6(GNAS):c.680A>G (p.Gln227Arg) SNV Pathogenic 15935 rs121913494 20:57484596-57484596 20:58909541-58909541
22 GNAS NM_000516.6(GNAS):c.681G>T (p.Gln227His) SNV Pathogenic 210048 rs137854533 20:57484597-57484597 20:58909542-58909542
23 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
24 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
25 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
26 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
27 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
28 GNAS NM_000516.5:c.(?_-424)_(257_?)dup Duplication Pathogenic 987921
29 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
30 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
31 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
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_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 15:48902952-48902953 15:48610755-48610756
34 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
35 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
36 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
37 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
38 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
39 FBN1 NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly) Indel Likely pathogenic 617942 rs1566903931 15:48757816-48757817 15:48465619-48465620
40 GNAS NM_016592.4(GNAS):c.*1049_*1051CAT[1] Microsatellite Likely pathogenic 623189 rs1569032751 20:57485842-57485844 20:58910787-58910789
41 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
42 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
43 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
44 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149
45 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
46 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
47 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 15:48703571-48703571 15:48411374-48411374
48 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
49 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
50 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958

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

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 IGF1 GNAS GH1 FGF23 FBN1 ADCY1
2
Show member pathways
12.69 PRL IGF1 IBSP GNAS GHR GH1
3 12.64 LRP5 IGF1 GNAS FGF23 APC ADCY1
4
Show member pathways
12.3 SST IGFBP3 IGF1 GNAS GHR GH1
5 12.16 SST GNAS AMH ADCY1
6 12.01 LRP5 GNAS APC ADCY1
7 11.7 IGFBP3 IGF1 BGLAP
8 11.52 PTHLH IGF1 GHR GH1
9 11.33 IGF1 GNAS CYP19A1 ADCY1
10 11.31 IGF1 CYP19A1 BGLAP
11
Show member pathways
11.25 PRL GHR GH1
12 11.25 SOST SLC34A1 PTHLH LRP5 GNAS FGF23
13 10.94 PTHLH IBSP GNAS BGLAP ADCY1
14 10.84 IGF1 GNAS GH1 FGF23 FBN1
15 10.69 IBSP FGF23 BGLAP

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 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 PTHLH PRL LRP5 IGF1 FGF23
2 osteoblast differentiation GO:0001649 9.82 IGFBP3 IBSP BGLAP
3 positive regulation of cold-induced thermogenesis GO:0120162 9.81 GNAS DIO2 APC
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.79 IGF1 GHR GH1
5 female pregnancy GO:0007565 9.79 PTHLH PRL GNAS
6 response to estradiol GO:0032355 9.78 SLC34A1 GHR GH1 CYP19A1
7 response to nutrient levels GO:0031667 9.77 PRL GH1 BGLAP
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 IGF1 GHR GH1
9 ossification GO:0001503 9.76 SOST SLC34A1 IBSP BGLAP
10 positive regulation of osteoblast differentiation GO:0045669 9.74 LRP5 IGF1 GNAS
11 response to peptide hormone GO:0043434 9.73 SLC34A1 LRP5 GHR
12 response to drug GO:0042493 9.73 SST SLC34A1 GNAS BGLAP AMH ADCY1
13 bone development GO:0060348 9.71 LRP5 GNAS BGLAP
14 bone mineralization GO:0030282 9.69 PTHLH IBSP BGLAP
15 positive regulation of JAK-STAT cascade GO:0046427 9.67 PRL GHR GH1
16 response to growth hormone GO:0060416 9.64 SLC34A1 GHR
17 cellular response to vitamin D GO:0071305 9.63 FGF23 BGLAP
18 insulin-like growth factor receptor signaling pathway GO:0048009 9.63 IGF1 GHR
19 growth hormone receptor signaling pathway GO:0060396 9.61 GHR GH1
20 regulation of multicellular organism growth GO:0040014 9.61 PRL IGF1 GHR
21 response to magnesium ion GO:0032026 9.6 SLC34A1 FGF23
22 cellular phosphate ion homeostasis GO:0030643 9.58 SLC34A1 FGF23
23 osteoblast development GO:0002076 9.58 PTHLH LRP5 BGLAP
24 phosphate ion homeostasis GO:0055062 9.55 SLC34A1 FGF23
25 skeletal system development GO:0001501 9.55 PTHLH IGF1 GNAS FBN1 BGLAP
26 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.54 PRL GHR GH1
27 response to parathyroid hormone GO:0071107 9.52 SLC34A1 GNAS
28 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.5 IGFBP3 IGF1 GH1
29 cellular response to parathyroid hormone stimulus GO:0071374 9.13 SOST SLC34A1 FGF23
30 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

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