MAS
MCID: MCC012
MIFTS: 71

Mccune-Albright Syndrome (MAS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Mccune-Albright Syndrome

MalaCards integrated aliases for Mccune-Albright Syndrome:

Name: Mccune-Albright Syndrome 57 19 42 58 75 73 28 12 5 38 71
Polyostotic Fibrous Dysplasia 11 19 42 58 75 71 31
Mass Syndrome 57 75 73 28 12 5 38
Fibrous Dysplasia of Bone 11 58 75 33
Mas 57 19 42 73
Overlap Connective Tissue Disease 57 73 71
Osteitis Fibrosa Disseminata 11 42 71
Mccune Albright Syndrome 11 19 14
Albright Syndrome 57 19 42
Mass Phenotype 57 19 53
Albright's Syndrome 42 75
Albright's Disease 19 42
Octd 57 73
Pofd 19 42
Pfd 19 42
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 42
Gonadotropin-Independent Female-Limited Sexual Precocity 58
Albright's Syndrome with Precocious Puberty 42
Mccune-Albright Syndrome, Somatic, Mosaic 57
Albright-Mccune-Sternberg Syndrome 42
Fibrous Dysplasia, Polyostotic 43
Fibrous Dysplasia Polyostotic 53
Albright-Sternberg Syndrome 42
Albright's Disease of Bone 42

Characteristics:


Inheritance:

Somatic mosaicism 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Mccune-Albright Syndrome: Childhood 58
Fibrous Dysplasia of Bone: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


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: 42 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 polyostotic fibrous dysplasia, is related to fibrous dysplasia and acth-independent cushing syndrome. An important gene associated with Mccune-Albright Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Metabolism of proteins and ERK Signaling. The drugs Risedronic acid and Etidronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related phenotypes are fibrous dysplasia of the bones and precocious puberty

GARD: 19 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 genetic change in a gene called GNAS, which is acquired after an egg is fertilized and only affects some of the body's cells and tissues.

OMIM®: 57 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome (MAS) 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 08-Dec-2022)

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.

Orphanet 58 Mccune-albright syndrome: McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

Fibrous dysplasia of bone: A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.

Disease Ontology: 11 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.

Wikipedia 75 Mccune-albright syndrome: McCune-Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems.... more...

Fibrous dysplasia of bone: Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting... more...

Mass syndrome: MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome. MASS stands... 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 500)
# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 32.8 PRL IGF1 GNAS GH1 FGF23 APC
2 acth-independent cushing syndrome 32.1 PRKAR1A PDE8B PDE11A GNAS ARMC5
3 hyperthyroidism 31.8 PRL LEP IGF1 GNAS GH1
4 hyperprolactinemia 31.6 PRL IGF1 GNAS GH1
5 hypophosphatemia 31.4 SOST GNAS FGF23
6 goiter 31.4 PRL IGF1 GNAS
7 acromegaly 31.4 PRL MEN1 LEP IGF1 GPR101 GNAS
8 pituitary adenoma 31.3 PRL PRKAR1A MEN1 IGF1 GNAS GH1
9 bone disease 31.3 SOST LRP5 IGF1 FGF23 COL2A1
10 pituitary tumors 31.3 PRL MEN1 IGF1 GNAS GH1
11 hyperparathyroidism 31.2 SOST PRKAR1A MEN1 IGF1 FGF23
12 adenoma 31.1 PRL PRKAR1A MEN1 IGF1 GNAS GH1
13 hypothyroidism 31.1 PRL PDE8B LEP IGF1 GNAS GH1
14 insulin-like growth factor i 31.1 PRL LEP IGF1 GH1
15 scoliosis 31.0 LEP IGF1 GH1 FBN1 COL2A1
16 pseudohypoparathyroidism, type ia 31.0 PRKAR1A GNAS GNA15 GNA11
17 hypothyroidism, congenital, nongoitrous, 1 31.0 PRKAR1A GNAS GNA15
18 hypogonadism 30.9 PRL LEP IGF1 GH1
19 chromophobe adenoma 30.9 PRL GH1
20 amenorrhea 30.9 PRL LEP IGF1
21 osteitis fibrosa 30.9 SOST GNAS FGF23
22 pituitary adenoma 1, multiple types 30.8 PRL MEN1 IGF1 GH1 AIP
23 peutz-jeghers syndrome 30.8 PRKAR1A GNAS APC
24 pituitary-dependent cushing's disease 30.8 PRL GH1
25 ossifying fibroma 30.8 MEN1 GNAS FGF23
26 galactorrhea 30.7 PRL IGF1
27 conn's syndrome 30.7 PRL PRKAR1A PDE8B PDE11A MEN1 LEP
28 hyperostosis 30.7 SOST LRP5 IGF1 FGF23
29 polycystic ovary syndrome 30.7 PRL LEP IGF1 GH1
30 acne 30.7 PRL LEP IGF1
31 empty sella syndrome 30.6 PRL IGF1 GH1
32 adrenal adenoma 30.6 PRKAR1A MEN1 GNAS ARMC5
33 lipoid congenital adrenal hyperplasia 30.6 PRL LEP IGF1 ARMC5
34 anovulation 30.6 PRL LEP IGF1
35 multiple endocrine neoplasia 30.6 PRL PRKAR1A MEN1 GNAS AIP
36 functioning pituitary adenoma 30.6 PRL PRKAR1A MEN1 IGF1 GPR101 GNAS
37 hyperandrogenism 30.6 PRL IGF1 GH1
38 meningioma, familial 30.6 PRL PRKAR1A MEN1 IGF1 ARMC5 APC
39 pseudohypoparathyroidism 30.5 PRL PRKAR1A LEP IGF1 GNAS GNA15
40 turner syndrome 30.5 LEP IGF1 GH1
41 nevus, epidermal 30.5 GNAS GNA11 FGF23
42 hypopituitarism 30.5 PRL LEP IGF1 GH1
43 parathyroid adenoma 30.5 PRL PRKAR1A MEN1 GNAS
44 primary hyperparathyroidism 30.4 SOST PRL PRKAR1A MEN1 GNA11 GH1
45 pituitary gland disease 30.4 PRL PRKAR1A MEN1 IGF1 GPR101 GNAS
46 prolactinoma 30.4 PRL PRKAR1A MEN1 IGF1 GNAS GH1
47 acth-independent macronodular adrenal hyperplasia 30.4 PRKAR1A PDE8B PDE11A MEN1 GNAS ARMC5
48 pituitary apoplexy 30.4 PRL IGF1 GH1 AIP
49 secondary hyperparathyroidism 30.3 PRKAR1A MEN1 FGF23
50 growth hormone secreting pituitary adenoma 30.3 PRL PRKAR1A MEN1 IGF1 GPR101 GNAS

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 30 (show top 50) (show all 125)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fibrous dysplasia of the bones 58 30 Obligate (100%) Obligate (100%)
Frequent (79-30%)
HP:0010734
2 precocious puberty 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000826
3 ovarian cyst 58 30 Very rare (1%) Very rare (<4-1%)
Very frequent (99-80%)
HP:0000138
4 large cafe-au-lait macules with irregular margins 58 30 Very rare (1%) Very rare (<4-1%)
Very frequent (99-80%)
HP:0005605
5 abnormal endocrine physiology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031072
6 scoliosis 58 30 Very rare (1%) Occasional (29-5%)
Frequent (79-30%)
HP:0002650
7 bowing of the long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0006487
8 macroorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000053
9 renal tubular dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0000124
10 hypophosphatemia 58 30 Frequent (33%) Frequent (79-30%)
Very rare (<4-1%)
HP:0002148
11 rickets 58 30 Frequent (33%) Frequent (79-30%)
HP:0002748
12 abnormality of femur morphology 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002823
13 hyperthyroidism 58 30 Very rare (1%) Very rare (<4-1%)
Frequent (79-30%)
HP:0000836
14 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005616
15 bone pain 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0002653
16 cortical irregularity 58 30 Frequent (33%) Frequent (79-30%)
HP:0005731
17 pathologic fracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002756
18 increased serum testosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0030088
19 growth abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0001507
20 abnormality of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
HP:0000326
21 thin bony cortex 58 30 Frequent (33%) Frequent (79-30%)
HP:0002753
22 abnormality of the skull base 58 30 Frequent (33%) Frequent (79-30%)
HP:0002693
23 patchy reduction of bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0010657
24 antalgic gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0031955
25 monostotic fibrous dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010736
26 elevated circulating alkaline phosphatase concentration 30 Frequent (33%) HP:0003155
27 abnormal mandible morphology 30 Frequent (33%) HP:0000277
28 abnormal zygomatic bone morphology 30 Frequent (33%) HP:0010668
29 abnormal facial skeleton morphology 30 Frequent (33%) HP:0011821
30 hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0000365
31 dental malocclusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000689
32 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
33 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
34 decreased fertility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000144
35 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
36 abnormality of tibia morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002992
37 osteomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002749
38 recurrent fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002757
39 paresthesia 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0003401
40 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002812
41 lower limb asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100559
42 goiter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000853
43 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002355
44 abnormality of the cervical spine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003319
45 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
46 abnormality of the humerus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003063
47 irregular menstruation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000858
48 bone fracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0020110
49 irregularly spaced teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006316
50 increased circulating prolactin concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000870

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.21 AIP APC ARMC5 COL2A1 FBN1 FGF23
2 no effect GR00402-S-2 10.21 AIP APC ARMC5 COL2A1 FGF23 GH1

MGI Mouse Phenotypes related to Mccune-Albright Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 AIP APC ARMC5 COL2A1 FBN1 FGF23
2 growth/size/body region MP:0005378 10.43 AIP APC ARMC5 COL2A1 FBN1 FGF23
3 endocrine/exocrine gland MP:0005379 10.41 AIP APC ARMC5 FBN1 FGF23 GH1
4 nervous system MP:0003631 10.37 APC COL2A1 FBN1 GH1 GNA11 GNAS
5 liver/biliary system MP:0005370 10.35 AIP APC COL2A1 GH1 GNA11 GNA15
6 renal/urinary system MP:0005367 10.32 APC COL2A1 FBN1 FGF23 GH1 GNA11
7 normal MP:0002873 10.3 APC COL2A1 GNA11 GNA15 GNAS IGF1
8 limbs/digits/tail MP:0005371 10.3 APC COL2A1 FBN1 FGF23 GNA11 GNAS
9 cardiovascular system MP:0005385 10.3 AIP APC COL2A1 FBN1 FGF23 GH1
10 behavior/neurological MP:0005386 10.25 APC COL2A1 FBN1 GH1 GNA11 GNAS
11 immune system MP:0005387 10.25 APC COL2A1 FBN1 FGF23 GH1 GNA11
12 neoplasm MP:0002006 10.21 AIP APC GNAS IGF1 LEP MEN1
13 embryo MP:0005380 10.19 AIP APC ARMC5 COL2A1 FBN1 GNAS
14 muscle MP:0005369 10.18 APC FBN1 GNA11 GNAS IGF1 LEP
15 adipose tissue MP:0005375 10.15 APC COL2A1 FBN1 GH1 GNAS IGF1
16 pigmentation MP:0001186 10.09 APC FBN1 GNA11 LEP LRP5 PRKAR1A
17 craniofacial MP:0005382 10.08 APC COL2A1 FBN1 GNA11 GNAS LRP5
18 respiratory system MP:0005388 10.07 COL2A1 FBN1 FGF23 GH1 GNA11 GNAS
19 reproductive system MP:0005389 10.06 APC FBN1 FGF23 GH1 GNA15 IGF1
20 skeleton MP:0005390 10.03 APC COL2A1 FBN1 FGF23 GNA11 GNAS
21 vision/eye MP:0005391 9.81 APC COL2A1 GNA15 GNAS GPR101 LEP
22 mortality/aging MP:0010768 9.8 AIP APC ARMC5 COL2A1 FBN1 FGF23
23 integument MP:0010771 9.36 AIP APC FBN1 FGF23 GNA11 GNA15

Drugs & Therapeutics for Mccune-Albright Syndrome

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronic acid 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 Hormones Phase 3
4 Diphosphonates Phase 2, Phase 3
5 Calcium, Dietary Phase 2, Phase 3
6 calcium channel blockers Phase 2, Phase 3
7 Vaccines Phase 2, Phase 3
8
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
9
Alendronic acid Approved Phase 2 121268-17-5, 66376-36-1 2088
10
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
11
Testolactone Approved, Investigational Phase 2 968-93-4 13769
12
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
13
Denosumab Approved Phase 2 615258-40-7
14
(R)-Rolipram Experimental, Investigational Phase 1, Phase 2 61413-54-5, 85416-75-7 5092
15 Phosphodiesterase Inhibitors Phase 1, Phase 2
16 Phosphodiesterase 4 Inhibitors Phase 1, Phase 2
17 Psychotropic Drugs Phase 1, Phase 2
18 Antidepressive Agents Phase 1, Phase 2
19 Aromatase Inhibitors Phase 2
20 Immunoglobulins Phase 2
21 Antibodies, Monoclonal Phase 2
22 Antibodies Phase 2
23 Mitogens Phase 2
24 Estrogens Phase 2
25 Estrogen Receptor Antagonists Phase 2
26 Estrogen Antagonists Phase 2
27 Hormone Antagonists Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
30
Histamine Approved, Investigational 51-45-6 774
31
Cimetidine Approved, Investigational 51481-61-9 2756
32
Histamine phosphate 51-74-1 134614
33 Pharmaceutical Solutions
34 Radiopharmaceuticals
35 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
2 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Completed NCT00445575 Phase 2, Phase 3 risedronate;placebo
3 COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases Recruiting NCT05236491 Phase 2, Phase 3
4 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
5 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)
6 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
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 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
9 A Phase 2 Study of Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous Dysplasia Recruiting NCT05509595 Phase 2 Burosumab
10 A Phase 2 Study of Denosumab for Prevention of Skeletal Disease Progression in Children With Fibrous Dysplasia Recruiting NCT05419050 Phase 2 denosumab
11 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
12 An Open Label Pilot Study of Denosumab Treatment for Fibrous Dysplasia Active, not recruiting NCT03571191 Phase 2 Denosumab
13 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
14 Computer Guided Contouring of Craniofacial Fibrous Dysplasia Involving Zygoma: a Case Series Unknown status NCT03852927
15 Histamine Responsiveness in Patients With McCune-Albright Syndrome Completed NCT00318097
16 Studies on Tissues From Patients With Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues Completed NCT00001973
17 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
18 Effectiveness of Medical Management in the Field of Rare Diseases. The Example of Fibrous Dysplasia of Bone. Completed NCT05422833
19 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Completed NCT02868645
20 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome Recruiting NCT00001727
21 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644
22 Autotaxin in Patients With GNAS/PTH Abnormalities Recruiting NCT04671719
23 Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study. Recruiting NCT03838991
24 Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study Recruiting NCT04931056
25 Elucidating Mechanisms of Pain in Adolescent and Adult Fibrous Dysplasia Patients Enrolling by invitation NCT04125862
26 Df-Life : Quality of Life in Patients With Fibrous Dysplasia Not yet recruiting NCT05406544
27 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, polyostotic

Genetic Tests for Mccune-Albright Syndrome

Genetic tests related to Mccune-Albright Syndrome:

# Genetic test Affiliating Genes
1 Mass Syndrome 28 FBN1
2 Mccune-Albright Syndrome 28 GNAS

Anatomical Context for Mccune-Albright Syndrome

Organs/tissues related to Mccune-Albright Syndrome:

MalaCards : Bone, Skin, Thyroid, Pituitary, Kidney, Brain, Heart

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 2192)
# Title Authors PMID Year
1
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 62 57 5
12970318 2003
2
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 62 57 5
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. 62 57 5
1594625 1992
4
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 62 57 5
1944469 1991
5
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 62 57 5
3720010 1986
6
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. 53 62 57
10646121 2000
7
Gastrointestinal polyps in McCune Albright syndrome. 62 57
21357941 2011
8
The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. 62 57
18397987 2008
9
Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. 62 57
17405850 2007
10
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 62 57
15126527 2004
11
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. 62 57
15001590 2004
12
Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. 62 57
14557424 2003
13
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 62 5
12727968 2003
14
Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. 62 57
12414879 2002
15
McCune-Albright syndrome: growth hormone dynamics in pregnancy. 62 57
11397839 2001
16
Dynamics of ovarian function in an adult woman with McCune--Albright syndrome. 62 57
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. 62 57
11297617 2001
18
McCune-Albright syndrome: a longitudinal clinical study of 32 patients. 62 57
10614538 1999
19
A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 62 5
10571700 1999
20
Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome. 62 57
10530562 1999
21
Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia. 62 57
10507737 1999
22
Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. 62 57
10356155 1999
23
McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. 62 57
10190480 1999
24
Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. 62 57
9541505 1998
25
Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. 62 57
9226216 1997
26
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. 62 5
8699958 1996
27
McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases. 62 57
7921205 1994
28
An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. 62 57
8126161 1994
29
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. 62 57
1400888 1992
30
Acromegaly and its treatment in the McCune-Albright syndrome. 62 57
1424186 1992
31
Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome. 62 57
1955519 1991
32
Monozygotic twins discordant for the major signs of McCune-Albright syndrome. 62 57
1838461 1991
33
A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. 62 57
1755313 1991
34
Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. 62 57
1681239 1991
35
Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome. 62 57
2273209 1990
36
Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. 62 5
2739055 1989
37
Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome). 62 57
3398893 1988
38
Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia? 62 57
3377009 1988
39
Osteosarcoma in fibrous dysplasia. 62 57
3163851 1988
40
Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. 62 57
3093862 1986
41
Gigantism associated with McCune-Albright's syndrome. 62 57
3934058 1985
42
Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome. 62 57
6434946 1984
43
A probable monogenic form of polyostotic fibrous dysplasia. 62 57
6577994 1983
44
Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. 62 57
6846403 1983
45
Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia. 62 57
485758 1979
46
Albright's syndrome with rickets. 62 57
431133 1979
47
McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. 62 57
340627 1978
48
Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome. 62 57
200724 1977
49
Hypophosphataemic osteomalacia in fibrous dysplasia. 62 57
948543 1976
50
Familial polyostotic fibrous dysplasia. 62 57
1060033 1975

Variations for Mccune-Albright Syndrome

ClinVar genetic disease variations for Mccune-Albright Syndrome:

5 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAS NM_000516.7(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic
15927 rs137854530 GRCh37: 20:57466782-57466782
GRCh38: 20:58891727-58891727
2 GNAS NM_000516.7(GNAS):c.432+1G>T SNV Pathogenic
1028314 rs1555889131 GRCh37: 20:57478847-57478847
GRCh38: 20:58903792-58903792
3 GNAS NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic
374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
4 FBN1 NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs) DUP Pathogenic
16434 rs1131692049 GRCh37: 15:48755365-48755366
GRCh38: 15:48463168-48463169
5 GNAS NM_000516.5:c.(?_-424)_(257_?)dup DUP Pathogenic
987921 GRCh37:
GRCh38:
6 FBN1 NM_000138.5(FBN1):c.2506del (p.Ser836fs) DEL Pathogenic
560217 rs1566911709 GRCh37: 15:48787699-48787699
GRCh38: 15:48495502-48495502
7 GNAS NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) SNV Pathogenic
15933 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
8 GNAS NM_000516.7(GNAS):c.602G>A (p.Arg201His) SNV Pathogenic
15934 rs121913495 GRCh37: 20:57484421-57484421
GRCh38: 20:58909366-58909366
9 GNAS NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) SNV Pathogenic
15945 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
10 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Pathogenic
Uncertain Significance
Not Provided
16451 rs137854475 GRCh37: 15:48779352-48779352
GRCh38: 15:48487155-48487155
11 FBN1 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) SNV Pathogenic
200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
12 FBN1 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) SNV Pathogenic
200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
13 FBN1 NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) SNV Pathogenic
36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
14 FBN1 NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic
180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
15 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic
36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
16 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic
36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
17 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic
42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
18 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic
36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
19 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic
16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
20 FBN1 NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic
264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
21 FBN1 NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic
265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
22 FBN1 NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) DEL Pathogenic
625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
23 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic
163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
24 FBN1 NM_000138.5(FBN1):c.5836del (p.Gln1946fs) DEL Pathogenic
1675081 GRCh37: 15:48737654-48737654
GRCh38: 15:48445457-48445457
25 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Pathogenic/Likely Pathogenic
163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
26 COL2A1 NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) SNV Likely Pathogenic
843504 rs1940156255 GRCh37: 12:48393801-48393801
GRCh38: 12:48000018-48000018
27 FBN1 NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely Pathogenic
549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
28 FBN1 NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely Pathogenic
626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
29 FBN1 NM_000138.5(FBN1):c.4460-8G>A SNV Likely Pathogenic
36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
30 FBN1 NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely Pathogenic
495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
31 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) DUP Likely Pathogenic
828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
32 FBN1 NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely Pathogenic
523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
33 FBN1 NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely Pathogenic
439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
34 FBN1 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely Pathogenic
200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
35 FBN1 NM_000138.5(FBN1):c.5546-1G>A SNV Likely Pathogenic
626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
36 FBN1 NM_000138.5(FBN1):c.3337+1dup DUP Likely Pathogenic
1527855 GRCh37: 15:48780308-48780309
GRCh38: 15:48488111-48488112
37 FBN1 NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) SNV Likely Pathogenic
1675078 GRCh37: 15:48789556-48789556
GRCh38: 15:48497359-48497359
38 FBN1 NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely Pathogenic
457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
39 FBN1 NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly) INDEL Likely Pathogenic
617942 rs1566903931 GRCh37: 15:48757816-48757817
GRCh38: 15:48465619-48465620
40 GNAS NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) MICROSAT Likely Pathogenic
623189 rs1569032751 GRCh37: 20:57485842-57485844
GRCh38: 20:58910787-58910789
41 COL2A1 NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) SNV Likely Pathogenic
1064731 GRCh37: 12:48368596-48368596
GRCh38: 12:47974813-47974813
42 COL2A1 NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) SNV Uncertain Significance
1064732 GRCh37: 12:48368519-48368519
GRCh38: 12:47974736-47974736
43 FBN1 NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly) SNV Uncertain Significance
684600 rs1597529691 GRCh37: 15:48733936-48733936
GRCh38: 15:48441739-48441739
44 FBN1 NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) SNV Uncertain Significance
316368 rs886051247 GRCh37: 15:48730014-48730014
GRCh38: 15:48437817-48437817
45 FBN1 NM_000138.5(FBN1):c.-132A>C SNV Uncertain Significance
316396 rs886051255 GRCh37: 15:48937098-48937098
GRCh38: 15:48644901-48644901
46 FBN1 NM_000138.5(FBN1):c.*1007G>T SNV Uncertain Significance
316343 rs886051236 GRCh37: 15:48702180-48702180
GRCh38: 15:48409983-48409983
47 FBN1 NM_000138.5(FBN1):c.1468+4C>A SNV Uncertain Significance
316385 rs765579667 GRCh37: 15:48807580-48807580
GRCh38: 15:48515383-48515383
48 FBN1 NM_000138.5(FBN1):c.*2078G>T SNV Uncertain Significance
316314 rs886051228 GRCh37: 15:48701109-48701109
GRCh38: 15:48408912-48408912
49 FBN1 NM_000138.5(FBN1):c.*406G>T SNV Uncertain Significance
316353 rs886051240 GRCh37: 15:48702781-48702781
GRCh38: 15:48410584-48410584
50 FBN1 NM_000138.5(FBN1):c.6357G>C (p.Val2119=) SNV Uncertain Significance
316367 rs886051246 GRCh37: 15:48729541-48729541
GRCh38: 15:48437344-48437344

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:

6
# 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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 APC FBN1 FGF23 GH1 GNA11 GNA15
2
Show member pathways
13.62 PRKAR1A LRP5 IGF1 GNAS GNA15 GNA11
3
Show member pathways
13.37 PRL PRKAR1A IGF1 GNAS GNA11 GH1
4
Show member pathways
13.2 PRKAR1A IGF1 GNAS GNA15 GNA11 GH1
5
Show member pathways
13.17 PRKAR1A IGF1 GNAS GH1 FGF23 APC
6 12.91 SOST PRKAR1A PDE8B PDE11A MEN1 LRP5
7
Show member pathways
12.88 PRKAR1A IGF1 GNAS GNA15 GNA11 GH1
8
Show member pathways
12.83 PRL IGF1 GH1 FGF23 COL2A1
9
Show member pathways
12.75 IGF1 GNAS GNA15 GNA11 GH1 FGF23
10
Show member pathways
12.74 PRKAR1A IGF1 GNAS GNA15 GNA11
11 12.58 SOST LRP5 IGF1 FGF23 APC
12
Show member pathways
12.53 PRKAR1A GNAS GNA15 GNA11 GH1
13
Show member pathways
12.39 GNA11 GNA15 GNAS PRKAR1A
14
Show member pathways
12.36 GNAS GNA15 GNA11 APC
15
Show member pathways
12.33 LRP5 IGF1 FGF23 APC
16 12.27 LRP5 GNAS GNA15 GNA11 APC
17
Show member pathways
12.25 MEN1 IGF1 FGF23 FBN1
18 12.04 PRKAR1A LRP5 GNAS APC
19
Show member pathways
12.02 GNAS PDE11A PDE8B PRKAR1A
20
Show member pathways
11.99 PRKAR1A LEP GNAS GNA15 GNA11
21
Show member pathways
11.92 GNA11 GNA15 GNAS IGF1 PRKAR1A
22 11.79 GNAS GNA15 GNA11
23 11.77 LEP IGF1 COL2A1
24 11.64 SOST LRP5 LEP IGF1
25 11.44 GNAS GNA15 GNA11
26 11.39 GNAS GNA15 GNA11
27 11.26 PRKAR1A GNAS GNA11
28 11.19 FGF23 GH1 GNA11 GNA15 GNAS IGF1
29 10.66 IGF1 GNAS GNA15 GNA11 GH1 FGF23

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 heterotrimeric G-protein complex GO:0005834 9.1 GNAS GNA15 GNA11

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

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.91 GNAS GNA15 GNA11
2 response to nutrient levels GO:0031667 9.88 PRL LEP GH1
3 skeletal system development GO:0001501 9.86 COL2A1 FBN1 GNA11 IGF1
4 negative regulation of osteoblast differentiation GO:0045668 9.8 MEN1 LRP5 FGF23
5 cellular response to leptin stimulus GO:0044320 9.76 LEP FGF23
6 regulation of protein phosphorylation GO:0001932 9.71 PRKAR1A LEP IGF1
7 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.67 GNA15 GNA11
8 signal transduction GO:0007165 9.53 PRL PDE8B PDE11A LEP IGF1 GPR101
9 bone mineralization involved in bone maturation GO:0035630 9.46 LEP IGF1
10 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 9.43 PRL LEP GH1

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

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.73 GNAS GNA15 GNA11
2 hormone activity GO:0005179 9.65 PRL LEP IGF1 GH1 FBN1
3 prolactin receptor binding GO:0005148 9.46 PRL GH1
4 guanyl nucleotide binding GO:0019001 8.8 GNAS GNA15 GNA11

Sources for Mccune-Albright Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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