MAS
MCID: MCC010
MIFTS: 58

Mccune-Albright Syndrome, Somatic, Mosaic (MAS) malady

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

Aliases & Classifications for Mccune-Albright Syndrome, Somatic, Mosaic

Aliases & Descriptions for Mccune-Albright Syndrome, Somatic, Mosaic:

Name: Mccune-Albright Syndrome, Somatic, Mosaic 54
Mccune-Albright Syndrome 54 50 24 25 56 66 13 69
Polyostotic Fibrous Dysplasia 12 50 24 25 56 69
Mccune Albright Syndrome 12 50 29 14
Mas 50 24 25 66
Osteitis Fibrosa Disseminata 12 25 69
Fibrous Dysplasia of Bone 12 56 42
Albright's Disease 50 25
Albright Syndrome 50 25
Pofd 50 25
Pfd 50 25
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 25
Gonadotropin-Independent Female-Limited Sexual Precocity 56
Albright's Syndrome with Precocious Puberty 25
Albright-Mccune-Sternberg Syndrome 25
Fibrous Dysplasia, Polyostotic 42
Fibrous Dysplasia Polyostotic 52
Albright-Sternberg Syndrome 25
Albright's Disease of Bone 25
Albright's Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 174800
Disease Ontology 12 DOID:1858
ICD10 33 Q78.1
ICD9CM 35 756.54
NCIt 47 C34610
UMLS via Orphanet 70 C0242292 C0016063 C0016065
ICD10 via Orphanet 34 Q78.1
MESH via Orphanet 43 D005359 D005357

Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

NIH Rare Diseases : 50 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. endocrine features may include precocious puberty; excess growth hormone; thyroid lesions with possible hyperthyroidism; cushing syndrome; and renal phosphate wasting. mas is not inherited. it is caused by a somatic mutation in a gene called gnas, which is acquired after an egg is fertilized and only affects some of the body's cells and tissues. management depends on the symptoms in each person and may include optimizing function related to fractures and deformities; medications; and surgery. last updated: 9/8/2016

MalaCards based summary : Mccune-Albright Syndrome, Somatic, Mosaic, also known as mccune-albright syndrome, is related to fibrous dysplasia/mccune-albright syndrome and fibrous dysplasia, and has symptoms including bone pain, macrocephaly and precocious puberty. An important gene associated with Mccune-Albright Syndrome, Somatic, Mosaic is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Etidronic acid and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

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

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

OMIM : 54 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Mccune-Albright Syndrome, Somatic, Mosaic

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

(show top 50) (show all 113)
id Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 12.3
2 fibrous dysplasia 11.6
3 osteitis fibrosa 11.6
4 gigantism 11.5
5 pituitary adenoma, growth hormone-secreting 11.1
6 carney complex, type 1 11.1
7 pseudoinflammatory fundus dystrophy 10.9
8 properdin deficiency, x-linked 10.9
9 precocious puberty 10.7
10 acromegaly 10.6
11 adenoma 10.5
12 hyperthyroidism 10.5
13 pituitary adenoma 10.4
14 thyroiditis 10.4
15 7q11.23 duplication syndrome 10.3 GH1 PRL
16 ovarian cyst 10.2
17 hyperparathyroidism 10.2
18 cerebral hemisphere lipoma 10.2 GH1 PRL
19 congenital tricuspid stenosis 10.2 GH1 PRL
20 iliac vein thrombophlebitis 10.2 APC PRL
21 intermittent squint 10.2 GH1 PRL
22 glaucoma, hereditary adult type 1a 10.2 GH1 PRL
23 olfactory nerve neoplasm 10.2 GH1 PRL
24 inclusion-cell disease 10.2 APC GNAS
25 testicular microlithiasis 10.2
26 hyperprolactinemia 10.2
27 rickets 10.2
28 neuropathy 10.2
29 hypophosphatemia 10.2
30 fat necrosis of breast 10.2 LHCGR PRL
31 grin2a-related speech disorders and epilepsy 10.2 GH1 GNAS PRL
32 acute thyroiditis 10.1 LHCGR PRL
33 critical congenital heart disease 10.1 GH1 IGF1
34 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.1 GH1 GNAS PRL
35 microtia, hearing impairment, and cleft palate 10.1 GH1 IGF1
36 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 GH1 IGF1
37 glomangiomyoma 10.1 GH1 GNAS PRL
38 dacryoadenitis 10.1 IGF1 PRL
39 pseudohypoparathyroidism 10.1
40 scoliosis 10.1
41 pancreatitis 10.1
42 chondrosarcoma 10.1
43 cushing's syndrome 10.1
44 hypogonadotropism 10.1
45 mazabraud syndrome 10.1
46 hypophosphatemic rickets 10.1
47 hypogonadism 10.1
48 epileptic encephalopathy, early infantile, 24 10.1 GH1 IGF1
49 pituitary adenoma, acth-secreting 10.1 GNAS IGF1 PRL
50 anisometropia 10.1 GH1 GNAS PRKAR1A

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



Diseases related to Mccune-Albright Syndrome, Somatic, Mosaic

Symptoms & Phenotypes for Mccune-Albright Syndrome, Somatic, Mosaic

Symptoms by clinical synopsis from OMIM:

174800

Clinical features from OMIM:

174800

Human phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 56 32 Very frequent (99-80%) HP:0002653
2 macrocephaly 56 32 Occasional (29-5%) HP:0000256
3 precocious puberty 56 32 Very frequent (99-80%) HP:0000826
4 kyphosis 56 32 Occasional (29-5%) HP:0002808
5 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
6 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
7 open bite 56 32 Occasional (29-5%) HP:0010807
8 macroorchidism 56 32 Occasional (29-5%) HP:0000053
9 carious teeth 56 32 Occasional (29-5%) HP:0000670
10 optic atrophy 56 32 Occasional (29-5%) HP:0000648
11 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
12 abnormality of vision 56 32 Occasional (29-5%) HP:0000504
13 hearing abnormality 56 32 Occasional (29-5%) HP:0000364
14 reduced bone mineral density 56 32 Very frequent (99-80%) HP:0004349
15 elevated hepatic transaminases 56 32 Occasional (29-5%) HP:0002910
16 hyperthyroidism 56 32 Occasional (29-5%) HP:0000836
17 goiter 56 32 Occasional (29-5%) HP:0000853
18 polycystic ovaries 56 32 Occasional (29-5%) HP:0000147
19 multiple cafe-au-lait spots 56 32 Very frequent (99-80%) HP:0007565
20 sarcoma 56 32 Occasional (29-5%) HP:0100242
21 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
22 hyperparathyroidism 56 32 Occasional (29-5%) HP:0000843
23 recurrent fractures 56 32 Very frequent (99-80%) HP:0002757
24 prolonged bleeding time 56 32 Occasional (29-5%) HP:0003010
25 long penis 56 32 Occasional (29-5%) HP:0000040
26 generalized hyperpigmentation 56 32 Very frequent (99-80%) HP:0007440
27 neoplasm of the thyroid gland 56 32 Occasional (29-5%) HP:0100031
28 tall stature 56 32 Occasional (29-5%) HP:0000098
29 abnormality of the palate 56 32 Occasional (29-5%) HP:0000174
30 testicular neoplasm 56 32 Occasional (29-5%) HP:0010788
31 neoplasm of the breast 56 32 Occasional (29-5%) HP:0100013
32 hearing impairment 32 HP:0000365
33 craniofacial hyperostosis 32 HP:0004493
34 abnormality of the teeth 56 Occasional (29-5%)
35 blindness 32 HP:0000618
36 abnormality of the eye 56 Occasional (29-5%)
37 pathologic fracture 32 HP:0002756
38 abnormality of the face 56 Occasional (29-5%)
39 growth hormone excess 32 HP:0000845
40 pituitary adenoma 32 HP:0002893
41 hypercortisolism 56 Occasional (29-5%)
42 facial asymmetry 32 HP:0000324
43 intestinal polyposis 32 HP:0200008
44 increased circulating cortisol level 32 HP:0003118
45 prolactin excess 32 HP:0000870
46 large cafe-au-lait macules with irregular margins 32 HP:0005605
47 polyostotic fibrous dysplasia 32 HP:0010735

MGI Mouse Phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.19 MEN1 PRKAR1A PRL APC FGF23 GNA11
2 homeostasis/metabolism MP:0005376 10.15 LHCGR MEN1 PRKAR1A PRL APC FGF23
3 growth/size/body region MP:0005378 10.13 APC FGF23 GNA11 GNAS IGF1 LHCGR
4 immune system MP:0005387 10.13 APC FGF23 GNA11 GNAS IGF1 LHCGR
5 cardiovascular system MP:0005385 10.11 APC FGF23 GNA11 GNAS IGF1 MEN1
6 hematopoietic system MP:0005397 10.05 PRKAR1A APC FGF23 GNA11 GNAS IGF1
7 adipose tissue MP:0005375 9.97 IGF1 LHCGR PRKAR1A APC GNAS
8 craniofacial MP:0005382 9.96 APC GNA11 GNAS MEN1 PRKAR1A
9 digestive/alimentary MP:0005381 9.95 APC FGF23 LHCGR MEN1 PRKAR1A
10 integument MP:0010771 9.93 APC FGF23 GNA11 GNAS IGF1 PRL
11 limbs/digits/tail MP:0005371 9.91 APC FGF23 GNA11 GNAS IGF1 LHCGR
12 liver/biliary system MP:0005370 9.88 APC GNA11 GNAS MEN1 PRKAR1A PRL
13 muscle MP:0005369 9.85 APC GNA11 GNAS IGF1 MEN1 PRKAR1A
14 neoplasm MP:0002006 9.8 APC GNAS IGF1 MEN1 PRKAR1A PRL
15 renal/urinary system MP:0005367 9.73 APC FGF23 GNA11 GNAS IGF1 LHCGR
16 reproductive system MP:0005389 9.7 APC FGF23 IGF1 LHCGR MEN1 PRKAR1A
17 respiratory system MP:0005388 9.35 IGF1 PRKAR1A FGF23 GNA11 GNAS
18 skeleton MP:0005390 9.17 APC FGF23 GNA11 GNAS IGF1 LHCGR

Drugs & Therapeutics for Mccune-Albright Syndrome, Somatic, Mosaic

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

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

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3
2 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
3 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2
4 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2
5 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2
6 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2
7 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
8 Faslodex in McCune Albright Syndrome Active, not recruiting NCT00278915 Phase 2
9 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1
10 Histamine Responsiveness in McCune-Albright Syndrome Unknown status NCT00318097
11 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
12 Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome Completed NCT00001973
13 Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001851
14 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
15 Natural History of Cherubism Observational Study Completed NCT01916772
16 Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia Recruiting NCT02868645
17 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
18 Genetic and Functional Analysis of Cherubism Recruiting NCT01630447

Search NIH Clinical Center for Mccune-Albright Syndrome, Somatic, Mosaic

Cochrane evidence based reviews: fibrous dysplasia of bone

Genetic Tests for Mccune-Albright Syndrome, Somatic, Mosaic

Genetic tests related to Mccune-Albright Syndrome, Somatic, Mosaic:

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome 29 24 GNAS

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

MalaCards organs/tissues related to Mccune-Albright Syndrome, Somatic, Mosaic:

39
Skin, Bone, Thyroid, Pituitary, Eye, Breast, Ovary

Publications for Mccune-Albright Syndrome, Somatic, Mosaic

Variations for Mccune-Albright Syndrome, Somatic, Mosaic

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

66
id Symbol AA change Variation ID SNP ID
1 GNAS p.Arg201His VAR_003441 rs121913495
2 GNAS p.Arg201Cys VAR_003442 rs11554273
3 GNAS p.Arg201Gly VAR_017844 rs11554273

ClinVar genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
3 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
4 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
5 GNAS NM_000516.5(GNAS): c.601C> G (p.Arg201Gly) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
6 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
7 GNAS NM_000516.5(GNAS): c.679C> A (p.Gln227Lys) single nucleotide variant Pathogenic rs797045203 GRCh38 Chromosome 20, 58909540: 58909540
8 GNAS NM_000516.5(GNAS): c.680A> T (p.Gln227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
9 GNAS NM_000516.5(GNAS): c.681G> T (p.Gln227His) single nucleotide variant Pathogenic rs137854533 GRCh38 Chromosome 20, 58909542: 58909542

Copy number variations for Mccune-Albright Syndrome, Somatic, Mosaic from CNVD:

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

Expression for Mccune-Albright Syndrome, Somatic, Mosaic

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

Pathways for Mccune-Albright Syndrome, Somatic, Mosaic

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

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 APC FGF23 GNA11 GNAS IGF1 LHCGR
2
Show member pathways
13.6 APC FGF23 GH1 GNA11 GNAS IGF1
3
Show member pathways
13.29 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
4
Show member pathways
13.26 FGF23 GH1 GNA11 GNAS IGF1 PRL
5
Show member pathways
13.19 FGF23 GH1 GNA11 GNAS IGF1
6
Show member pathways
13.02 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
7
Show member pathways
12.96 APC FGF23 GH1 GNAS IGF1 PRKAR1A
8
Show member pathways
12.79 GH1 GNA11 GNAS IGF1 PRKAR1A PRL
9
Show member pathways
12.78 FGF23 GH1 GNA11 GNAS IGF1
10
Show member pathways
12.67 GH1 GNA11 GNAS PRKAR1A
11
Show member pathways
12.64 GNA11 GNAS IGF1 PRKAR1A
12
Show member pathways
12.46 FGF23 GH1 IGF1 PRKAR1A
13 12.35 FGF23 GH1 IGF1 PRL
14
Show member pathways
12.31 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
15
Show member pathways
12.3 GNA11 GNAS IGF1 PRKAR1A
16
Show member pathways
12.21 GNA11 GNAS PRKAR1A
17
Show member pathways
12.17 GNA11 GNAS PRKAR1A
18 12.15 APC FGF23 GNA11 GNAS IGF1
19
Show member pathways
12.12 GNAS IGF1 PRKAR1A
20
Show member pathways
12.04 GNA11 GNAS LHCGR
21
Show member pathways
12 GNA11 GNAS PRKAR1A
22 11.96 APC GNAS PRKAR1A
23
Show member pathways
11.79 GNA11 GNAS PRKAR1A
24 11.36 GNA11 GNAS IGF1
25 11.28 APC MEN1
26
Show member pathways
11.25 GH1 PRL
27 11.24 GNAS IGF1 LHCGR
28 11.15 GNA11 LHCGR
29 11.02 GNA11 GNAS PRKAR1A
30 10.94 GNAS PRKAR1A
31 10.79 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A

GO Terms for Mccune-Albright Syndrome, Somatic, Mosaic

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

id Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.96 GNA11 GNAS
2 endosome lumen GO:0031904 8.62 GH1 PRL

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.58 GNA11 GNAS IGF1
2 negative regulation of osteoblast differentiation GO:0045668 9.54 FGF23 MEN1
3 cognition GO:0050890 9.52 GNAS LHCGR
4 cellular response to glucagon stimulus GO:0071377 9.51 GNAS PRKAR1A
5 activation of adenylate cyclase activity GO:0007190 9.49 GNAS LHCGR
6 renal water homeostasis GO:0003091 9.48 GNAS PRKAR1A
7 regulation of multicellular organism growth GO:0040014 9.46 IGF1 PRL
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.43 APC MEN1
9 positive regulation of JAK-STAT cascade GO:0046427 9.37 GH1 PRL
10 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.32 GH1 IGF1
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.26 GH1 PRL
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 GH1 IGF1
13 positive regulation of cAMP-mediated signaling GO:0043950 8.96 GNAS LHCGR
14 cellular protein metabolic process GO:0044267 8.92 FGF23 IGF1 MEN1 PRL

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.54 FGF23 GH1 IGF1
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNA11 GNAS
3 guanyl nucleotide binding GO:0019001 9.26 GNA11 GNAS
4 insulin-like growth factor receptor binding GO:0005159 9.16 GNAS IGF1
5 hormone activity GO:0005179 9.13 GH1 IGF1 PRL
6 prolactin receptor binding GO:0005148 8.62 GH1 PRL

Sources for Mccune-Albright Syndrome, Somatic, Mosaic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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