MCID: MCC010
MIFTS: 58

Mccune-Albright Syndrome, Somatic, Mosaic malady

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

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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

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

Name: Mccune-Albright Syndrome, Somatic, Mosaic 51
Mccune-Albright Syndrome 51 70 47 24 25 53 69 12 67
Polyostotic Fibrous Dysplasia 11 47 24 25 53 67
Mccune Albright Syndrome 11 47 26 13
Mas 47 24 25 69
Osteitis Fibrosa Disseminata 11 25 67
Fibrous Dysplasia of Bone 11 53 38
Albright's Disease 47 25
Albright Syndrome 47 25
Pofd 47 25
Pfd 47 25
 
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 25
Gonadotropin-Independent Female-Limited Sexual Precocity 53
Albright's Syndrome with Precocious Puberty 25
Albright-Mccune-Sternberg Syndrome 25
Fibrous Dysplasia, Polyostotic 38
Macrophage Activation Syndrome 67
Properdin Deficiency, X-Linked 67
Fibrous Dysplasia Polyostotic 49
Albright-Sternberg Syndrome 25
Albright's Disease of Bone 25
Albright's Syndrome 25

Characteristics:

Orphanet epidemiological data:

53
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:

63
mccune-albright syndrome, somatic, mosaic:
Inheritance: somatic mosaicism
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 174800
Disease Ontology11 DOID:1858
ICD1029 Q78.1
ICD9CM31 756.54
NCIt44 C34610
UMLS via Orphanet68 C0242292, C0016063, C0016065
ICD10 via Orphanet30 Q78.1
MESH via Orphanet39 D005359, D005357

Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

About this section
NIH Rare Diseases:47 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 osteitis fibrosa, and has symptoms including precocious puberty, cafe-au-lait spot and hypophosphatemia. An important gene associated with Mccune-Albright Syndrome, Somatic, Mosaic is GNAS (GNAS Complex Locus), and among its related pathways are Growth hormone receptor signaling and Transcription_CREM signaling in testis. Affiliated tissues include bone, skin and pituitary, and related mouse phenotypes are liver/biliary system and craniofacial.

Disease Ontology:11 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:51 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...

UniProtKB/Swiss-Prot:69 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

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1fibrous dysplasia/mccune-albright syndrome12.3
2osteitis fibrosa11.6
3pituitary adenoma, growth hormone-secreting11.2
4carney complex, type 111.2
5properdin deficiency, x-linked11.1
6fibrous dysplasia10.9
7precocious puberty10.7
8acromegaly10.6
9ovarian mucinous malignant adenofibroma10.5GH1, PRL
10aneurysm or dilatation of ascending aorta10.5GH1, PRL
11adenoma10.5
12cold-induced sweating syndrome 210.5GNAS, PRL
13meningocele10.5APC, PRL
14hyperthyroidism10.5
15charcot-marie-tooth disease type 710.4APC, GNAS
16riedel's fibrosing thyroiditis10.4LHCGR, PRL
17pituitary adenoma10.4
18aortic valve atresia10.4GH1, PRL
19thyroiditis10.4
2049, xxxxx10.4GH1, PRL
21gigantism10.3
22fumarate hydratase deficiency10.3GH1, GNAS, PRL
23sensory peripheral neuropathy10.3FGF23, GNAS
24echolalia10.3GNAS, PRL
25loeffler endocarditis10.3PRKAR1A, PRL
26hyperparathyroidism10.2
27ovarian cyst10.2
28nasopharyngeal disease10.2PRKAR1A, PRL
29acute myocarditis10.2GNAS, PRKAR1A, PRL
30chronic salpingo-oophoritis10.2GNAS, PRKAR1A, PRL
31testicular microlithiasis10.2
32hyperprolactinemia10.2
33hypophosphatemia10.2
34rickets10.2
35neuropathy10.2
36craniopharyngioma10.2GH1, PRL
37lipoadenoma10.2GH1, MEN1, PRL
38malignant spindle cell melanoma10.1MEN1, PRKAR1A
39epilepsy idiopathic generalized 810.1GNA11, PRKAR1A
40chondrosarcoma10.1
41hypophosphatemic rickets10.1
42scoliosis10.1
43cushing's syndrome10.1
44hypogonadism10.1
45pseudohypoparathyroidism10.1
46pancreatitis10.1
47hypogonadotropism10.1
48mazabraud syndrome10.1
49cone-rod dystrophy 510.1GNAS, MEN1, PRKAR1A
50ehlers-danlos syndrome, type viii10.1MEN1, PRKAR1A, PRL

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



Diseases related to mccune-albright syndrome, somatic, mosaic

Symptoms for Mccune-Albright Syndrome, Somatic, Mosaic

About this section

Symptoms by clinical synopsis from OMIM:

174800

Clinical features from OMIM:

174800

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

 63 53 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty63 53 hallmark (90%) Very frequent (99-80%) HP:0000826
2 cafe-au-lait spot63 hallmark (90%) HP:0000957
3 hypophosphatemia63 53 hallmark (90%) Very frequent (99-80%) HP:0002148
4 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
5 bone pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002653
6 recurrent fractures63 53 hallmark (90%) Very frequent (99-80%) HP:0002757
7 reduced bone mineral density63 53 hallmark (90%) Very frequent (99-80%) HP:0004349
8 generalized hyperpigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007440
9 long penis63 53 occasional (7.5%) Occasional (29-5%) HP:0000040
10 macroorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000053
11 tall stature63 53 occasional (7.5%) Occasional (29-5%) HP:0000098
12 polycystic ovaries63 53 occasional (7.5%) Occasional (29-5%) HP:0000147
13 abnormality of the palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000174
14 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
15 mandibular prognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000303
16 hearing abnormality63 53 occasional (7.5%) Occasional (29-5%) HP:0000364
17 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
18 carious teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000670
19 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
20 dental malocclusion63 occasional (7.5%) HP:0000689
21 hyperthyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000836
22 hyperparathyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000843
23 goiter63 53 occasional (7.5%) Occasional (29-5%) HP:0000853
24 hypercortisolism63 53 occasional (7.5%) Occasional (29-5%) HP:0001578
25 abnormality of coagulation63 occasional (7.5%) HP:0001928
26 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
27 elevated hepatic transaminases63 53 occasional (7.5%) Occasional (29-5%) HP:0002910
28 testicular neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0010788
29 neoplasm of the breast63 53 occasional (7.5%) Occasional (29-5%) HP:0100013
30 neoplasm of the thyroid gland63 53 occasional (7.5%) Occasional (29-5%) HP:0100031
31 sarcoma63 53 occasional (7.5%) Occasional (29-5%) HP:0100242
32 facial asymmetry63 HP:0000324
33 hearing impairment63 HP:0000365
34 blindness63 HP:0000618
35 growth hormone excess63 HP:0000845
36 prolactin excess63 HP:0000870
37 pathologic fracture63 HP:0002756
38 pituitary adenoma63 HP:0002893
39 craniofacial hyperostosis63 HP:0004493
40 large cafe-au-lait macules with irregular margins63 HP:0005605
41 polyostotic fibrous dysplasia63 HP:0010735
42 intestinal polyposis63 HP:0200008
43 abnormality of the teeth53 Occasional (29-5%)
44 abnormality of the face53 Occasional (29-5%)
45 abnormality of the eye53 Occasional (29-5%)
46 abnormality of vision53 Occasional (29-5%)
47 prolonged bleeding time53 Occasional (29-5%)
48 multiple cafe-au-lait spots53 Very frequent (99-80%)
49 open bite53 Occasional (29-5%)

UMLS symptoms related to Mccune-Albright Syndrome, Somatic, Mosaic:


decreased libido, increased libido, pigmentation lip

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

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etidronic acidapprovedPhase 2, Phase 3827414-83-7, 2809-21-43305
Synonyms:
(1-Hydroxyethylene)diphosphonic acid
(1-Hydroxyethylidene)bis(phosphonic acid)
(1-Hydroxyethylidene)bisphosphonic acid
(1-Hydroxyethylidene)diphoshonic acid
(1-Hydroxyethylidene)diphosphonic acid
(1-hydroxy-1-phosphonoethyl)phosphonic acid
(1-hydroxy-ethylidene)diphosphonic acid
(1-hydroxyethane-1,1-diyl)bis(phosphonic acid)
(Hydroxyethylidene)diphosphonic acid
0-02-00-00171 (Beilstein Handbook Reference)
1,1,1-Ethanetriol diphosphonate
1-HYDROXY-1,1-DIPHOSPHONOETHANE
1-Hydroxy-1,1-diphosphonoethane
1-Hydroxyethane-1,1,-diphosphonic acid
1-Hydroxyethane-1,1-bisphosphonic acid
1-Hydroxyethane-1,1-diphosphonate
1-Hydroxyethane-1,1-diphosphonic acid
1-Hydroxyethanediphosphonic acid
1-Hydroxyethylidene 1,1-diphosphonic acid
1-Hydroxyethylidene-1,1-biphosphonate
1-Hydroxyethylidene-1,1-bisphosphonate
1-Hydroxyethylidene-1,1-diphosphonic acid
1-Hydroxyethylidenediphosphonic acid
1-hydroxyethane 1,1-diphosphonic acid
1000SL
100511-44-2
103736-66-9
106908-76-3
129130-42-3
138360-84-6
14860-53-8 (tetra-potassium salt)
192526-55-9
2809-21-4
303177-33-5
51888-66-5
54342_ALDRICH
54342_FLUKA
66216-98-6
853028-38-3
85985-26-8
86159-18-4
AC1L1FMT
Acetodiphosphonic acid
Acide etidronique
Acide etidronique [INN-French]
Acido etidronico
Acido etidronico [INN-Spanish]
Acidum etidronicum
Acidum etidronicum [INN-Latin]
BPBio1_000997
BRN 1789291
BSPBio_000905
Bio-0708
C07736
CHEBI:170675
CHEBI:4907
CHEMBL871
CID3305
 
Cintichem Technetium 99m Hedspa
D02373
DB01077
Dequest 2010
Dequest 2015
Dequest Z 010
Didronel
Didronel IV
Diphosphonate (base)
EHDP
EINECS 220-552-8
Ethane-1-hydroxy-1,1-bisphosphonate
Ethane-1-hydroxy-1,1-bisphosphonic acid
Ethane-1-hydroxy-1,1-diphosphonate
Ethane-1-hydroxy-1,1-diphosphonic acid
Etidronate
Etidronate Disodium
Etidronic acid
Etidronic acid (USAN/INN)
Etidronic acid [USAN:INN:BAN]
Etidronic acid monohydrate
Etidronsaeure
Etidronsäure
Ferrofos 510
H0587
H6773_ALDRICH
H6773_SIGMA
HEDP
HSDB 5898
Hydroxyethane-1,1-diphosphonic acid
Hydroxyethanediphosphonic acid
I14-1271
Jsp005415
LS-106637
MLS002207267
MLS002695948
MPI Stannous Diphosphonate
MolPort-001-786-542
NCGC00159352-02
NSC 227995
NSC227995
Osteoscan
Oxyethylidenediphosphonic acid
Phosphonic acid, 1-hydroxy-1,1-ethanediyl ester
Prestwick0_000863
Prestwick1_000863
Prestwick2_000863
Prestwick3_000863
RP 61
SMR000038750
SPBio_002826
STK721995
Turpinal SL
UNII-M2F465ROXU
acide étidronique
acidum etidronicum
ethane-1-hydroxy-1,1-bisphosphonic acid
etidronate
ácido etidrónico
2Risedronate SodiumPhase 2, Phase 398115436-72-1
3Bone Density Conservation AgentsPhase 2, Phase 33266
4HormonesPhase 3, Phase 2, Phase 113979
5calcium channel blockersPhase 2, Phase 31940
6DiphosphonatesPhase 2, Phase 3446
7Calcium, DietaryPhase 2, Phase 35525
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 2, Phase 112767
9Hormone AntagonistsPhase 3, Phase 2, Phase 112778
10
TestolactoneapprovedPhase 24968-93-413769
Synonyms:
(4AS,4br,10ar,10bs,12as)-10a,12a-dimethyl-3,4,4a,5,6,10a,10b,11,12,12a-decahydro-2H-naphtho[2,1-F]chromene-2,8(4bh)-dione
(4aS,4bR,10aR,10bS,12aS)-10a,12a-dimethyl-3,4,4a,5,6,10a,10b,11,12,12a-decahydro-2H-naphtho[2,1-f]chromene-2,8(4bH)-dione
(4aS,4bR,10aR,10bS,12aS)-10a,12a-dimethyl-4,4a,4b,5,6,10b,11,12-octahydro-3H-naphtho[2,1-f]chromene-2,8-dione
.DELTA.1-Dehydrotestolactone
.DELTA.1-Dehydrotestololactone
.DELTA.1-Testololactone
1 Dehydrotestolactone
1,2,3,4,4a,4b,7,9,10,10a-Decahydro-2-hydroxy-2,4b-dimethyl-7-oxo-1-phenanthrenepropionic acid delta-lactone
1,2-Dehydrotestololactone
1,2-Didehydrotestololactone
1,2-didehydrotestololactone
1-Dehydrotestolactone
1-Dehydrotestololactone
1-dehydrotestololactone
13,17-Secoandrosta-1,4-dien-17-oic acid, 13-hydroxy-3-oxo-, .delta.-lactone
13,17-Secoandrosta-1,4-dien-17-oic acid, 13-hydroxy-3-oxo-, delta-lactone
13,17-Secoandrosta-1,4-dien-17-oic acid, 13-hydroxy-3-oxo-, delta-lactone (8CI)
13,17-Secoandrosta-1,4-dien-17-oic acid, 13-hydroxy-3-oxo-, lactone
13,17-Secoandrosta-1,4-dien-17-oic acid, 13.alpha.-hydroxy-3-oxo-, .delta.-lactone
13-Hydroxy-3-oxo-13,17-secoandrosta-1,4-dien-17-oic acid .delta.-lactone
13-Hydroxy-3-oxo-13,17-secoandrosta-1,4-dien-17-oic acid delta-lactone
17a-Oxa-D-homoandrosta-1,4-diene-3,17-dione
17alpha-Oxo-D-homo-1,4-androstadiene-3,17-dione
2H-Phenanthro[2,1-b]pyran-2,8(4bH)-dione, 3,4,4a,5,6,10a,10b,11,12,12a-decahydro-10a,12a-dimethyl-, lactone
3-oxo-13,17-secoandrosta-1,4-dieno-17,13alpha-lactone
968-93-4
AC1L22FS
Bristol Myers Squibb Brand of Testolactone
Bristol-Myers Squibb Brand of Testolactone
C02197
C19H24O3
CHEBI:9460
CHEMBL1571
CID13769
D-Homo-17A-oxaandrosta-1,4-diene-3,17-dione
D-Homo-17a-oxaandrosta-1,4-diene-3,17-dione
 
D00153
D013738
DB00894
Delta(1)-testololactone
Delta-1-testololactone
EINECS 213-534-6
Fludestrin
HSDB 3255
LMST02020084
LS-102968
MolPort-004-286-011
NCI60_001908
NSC 23759
NSC-12173
NSC23759
SQ 9538
SQ-9538
TESLAC (TN)
Teolit
Teslac
Teslak
Testolacton
Testolactona
Testolactona [INN-Spanish]
Testolactone
Testolactone (USP/INN)
Testolactone [USAN:INN]
Testolactonum
Testolactonum [INN-Latin]
Testolattone
Testolattone [DCIT]
Testolattone [Dcit]
UNII-6J9BLA949Q
ZINC04081771
delta(1)-Dehydrotestolactone
delta(1)-Testolactone
delta(1)-Testololactone
11
Anastrozoleapproved, investigationalPhase 2272120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
12
AlendronateapprovedPhase 2160121268-17-5, 66376-36-12088
Synonyms:
(4-Amino-1-hydroxybutylidene)bisphosphonic acid
(4-Amino-1-hydroxybutylidene)diphosphonic acid
(4-amino-1-hydroxy-1-phosphonobutyl)phosphonic acid
(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)
(4-amino-1-hydroxybutylidene)bisphosphonic acid
121268-17-5 (mono-hydrochloride salt, trihydrate)
1yhm
4-Amino-1-hydroxybutane-1,1-diphosphonate
4-Amino-1-hydroxybutane-1,1-diphosphonic Acid
4-Amino-1-hydroxybutylidene-1,1-bis(phosphonic acid)
4-Amino-1-hydroxybutylidene-1,1-bisphosphonate
4-amino-1-hydroxybutane-1,1-diphosphonic acid
66376-36-1
ABDP
AC1L1CW3
AKOS001015793
ALENDRONATE SODIUM
ALENDRONIC ACID
Acide Alendronique
Acide Alendronique [INN-French]
Acide alendronique
Acide alendronique [INN-French]
Acido Alendronico
Acido Alendronico [INN-Spanish]
Acido alendronico
Acido alendronico [INN-Spanish]
Acidum Alendronicum
Acidum Alendronicum [INN-Latin]
Acidum alendronicum
Acidum alendronicum [INN-Latin]
Adronat
 
Alendronate
Alendronate Sodium
Alendronate sodium hydrate
Alendronic acid
Alendronic acid (INN)
Alendronic acid [INN:BAN]
Alendros
Arendal
BIDD:GT0180
C07752
CHEBI:2567
CHEMBL870
CID2088
D07119
DB00630
Fosamax
Fosamax Plus D
HSCI1_000337
LS-106421
MK 217
MK-217
MolPort-000-421-410
NCGC00096054-01
NCGC00096054-03
NCGC00096054-04
Onclast
Oprea1_422906
Phosphonic acid, (4-amino-1-hydroxybutylidene)bis
SPECTRUM1505166
ST50036159
UNII-X1J18R4W8P
alendronate
bisphosphonate, 65
13
Fulvestrantapproved, investigationalPhase 2194129453-61-8104741, 17756771
Synonyms:
(7R,13S,17S)-13-methyl-7-(9-(4,4,5,5,5-pentafluoropentylsulfinyl)nonyl)-7,8,9,11,12,13,14,15,16,17-decahydro-6H-cyclopenta[a]phenanthrene-3,17-diol
(7R,8R,9S,13S,14S,17S)-13-methyl-7-[9-(4,4,5,5,5-pentafluoropentylsulfinyl)nonyl]-6,7,8,9,11,12,14,15,16,17-decahydrocyclopenta[a]phenanthrene-3,17-diol
(7R,8S,9S,13S,14S,17S)-13-methyl-7-[9-(4,4,5,5,5-pentafluoropentylsulfinyl) nonyl]-6,7,8,9,11,12,14,15,16,17-decahydrocyclopenta[a]phenanthrene-3,17-diol
(7alpha,17beta)-7-{9-[(4,4,5,5,5-pentafluoropentyl)sulfinyl]nonyl}estra-1,3,5(10)-triene-3,17-diol
129453-61-8
7-(9-(4,4,5,5,5-pentafluoropentylsulfinyl)nonyl)estra-1,3,5(10)-triene-3,17-diol
7alpha-(9-((4,4,5,5,5,-Pentafluoropentyl)sulfinyl)nonyl)estra-1,3,5(10)-triene-3,17beta-diol
7alpha-(9-((4,4,5,5,5-Pentafluoropentyl)sulfinyl)nonyl)estra-1,3,5(10)-triene-3,17beta-diol
7alpha-[9[(4,4,5,5,5-Pentafluropentyl)sulfinyl]nonyl]-estra-1,3,5(10)-triene-3, 17 beta diol
AC-4693
AC1L2XEN
AstraZeneca brand of fulvestrant
BIDD:ER0348
BIDD:PXR0136
C070081
C32H47F5O3S
CCRIS 8741
CHEBI:404798
CHEMBL1358
CID104741
D01161
DB00947
Faslodex
Faslodex (TN)
 
Faslodex(ICI 182,780)
Faslodex, ICI 182780, Fulvestrant
Fulvestrant
Fulvestrant (JAN/USAN/INN)
Fulvestrant [USAN]
HMS2090N22
HSDB 7658
I06-1109
ICI 182,780
ICI 182,789
ICI-182780
Ici 182780
LS-64781
NCGC00164789-02
NSC719276
S1191_Selleck
UNII-22X328QOC4
ZD 182780
ZD-182780
ZD-9238
ZM 182780
ZM-182780
fulvestrant
nchembio.168-comp5
nchembio.76-comp5
nchembio775-comp4
14Estrogen AntagonistsPhase 2, Phase 11315
15Steroid Synthesis InhibitorsPhase 2, Phase 11718
16Aromatase InhibitorsPhase 2, Phase 1807
17EstrogensPhase 2, Phase 12470
18Antineoplastic Agents, HormonalPhase 25407
19Estrogen Receptor AntagonistsPhase 2186
20
Letrozoleapproved, investigationalPhase 1382112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
D00964
 
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
21
Histamineapproved103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
22
Histamine Phosphateapproved103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
23Neurotransmitter Agents17734

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of BoneUnknown statusNCT00445575Phase 2, Phase 3
2A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright SyndromeCompletedNCT00017927Phase 3
3TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONEUnknown statusNCT01791842Phase 2
4Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeCompletedNCT00001728Phase 2
5Testolactone for the Treatment of Girls With LHRH Resistant Precocious PubertyCompletedNCT00001181Phase 2
6Arimidex in McCune Albright SyndromeCompletedNCT00055302Phase 2
7PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright SyndromeRecruitingNCT02743377Phase 1, Phase 2
8Faslodex in McCune Albright SyndromeActive, not recruitingNCT00278915Phase 2
9Effects of Letrozole on Precocious Puberty Due to McCune Albright SyndromeCompletedNCT00006174Phase 1
10Histamine Responsiveness in McCune-Albright SyndromeUnknown statusNCT00318097
11Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyUnknown statusNCT01902420
12Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright SyndromeCompletedNCT00001973
13Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeCompletedNCT00001851
14The Influence of Bisphosphonates in the Oral Cavity in ChildrenCompletedNCT00402064
15Natural History of Cherubism Observational StudyCompletedNCT01916772
16Interest of Serum Periostin Dosage in Patients With Bone Fibrous DysplasiaRecruitingNCT02868645
17Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeRecruitingNCT00001727
18Genetic and Functional Analysis of CherubismRecruitingNCT01630447

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


Cochrane evidence based reviews: fibrous dysplasia, polyostotic

Genetic Tests for Mccune-Albright Syndrome, Somatic, Mosaic

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

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome26 24 GNAS

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

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

35
Bone, Skin, Pituitary, Thyroid, Eye, Ovary, Brain

Animal Models for Mccune-Albright Syndrome, Somatic, Mosaic or affiliated genes

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

40 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3APC, GNA11, GNAS, MEN1, PRL
2MP:00053829.2APC, GNA11, GNAS, MEN1, PRKAR1A
3MP:00053759.1APC, GNAS, IGF1, LHCGR, PRKAR1A
4MP:00020068.7APC, GNAS, IGF1, MEN1, PRKAR1A, PRL
5MP:00107718.4APC, FGF23, GNA11, GNAS, IGF1, PRL
6MP:00053698.3APC, GNA11, GNAS, IGF1, MEN1, PRKAR1A
7MP:00053718.3APC, FGF23, GNA11, GNAS, IGF1, LHCGR
8MP:00053678.3APC, FGF23, GNA11, GNAS, IGF1, LHCGR
9MP:00053898.0APC, FGF23, IGF1, LHCGR, MEN1, PRKAR1A
10MP:00053978.0APC, FGF23, GNA11, GNAS, IGF1, LHCGR
11MP:00053857.9APC, FGF23, GNA11, GNAS, IGF1, MEN1
12MP:00053787.5APC, FGF23, GNA11, GNAS, IGF1, LHCGR
13MP:00053797.2APC, FGF23, GNA11, GNAS, IGF1, LHCGR
14MP:00053767.2APC, FGF23, GNA11, GNAS, IGF1, LHCGR
15MP:00053877.2APC, FGF23, GNA11, GNAS, IGF1, LHCGR
16MP:00053907.1APC, FGF23, GNA11, GNAS, IGF1, LHCGR

Publications for Mccune-Albright Syndrome, Somatic, Mosaic

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Variations for Mccune-Albright Syndrome, Somatic, Mosaic

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

69
id Symbol AA change Variation ID SNP ID
1GNASp.Arg201HisVAR_003441rs121913495
2GNASp.Arg201CysVAR_003442rs11554273
3GNASp.Arg201GlyVAR_017844rs11554273

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_000516.5(GNAS): c.601C> T (p.Arg201Cys)SNVPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_000516.5(GNAS): c.602G> A (p.Arg201His)SNVPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_000516.5(GNAS): c.680A> G (p.Gln227Arg)SNVPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
4GNASNM_000516.5(GNAS): c.601C> A (p.Arg201Ser)SNVPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
5GNASNM_000516.5(GNAS): c.601C> G (p.Arg201Gly)SNVPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
6GNASNM_000516.5(GNAS): c.602G> T (p.Arg201Leu)SNVPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
7GNASNM_000516.5(GNAS): c.679C> A (p.Gln227Lys)SNVPathogenicrs797045203GRCh38Chr 20, 58909540: 58909540
8GNASNM_000516.5(GNAS): c.680A> T (p.Gln227Leu)SNVPathogenicrs121913494GRCh38Chr 20, 58909541: 58909541
9GNASNM_000516.5(GNAS): c.681G> T (p.Gln227His)SNVPathogenicrs137854533GRCh38Chr 20, 58909542: 58909542

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11428282230700000242951149MicrodeletionAlbright''s disease

Expression for genes affiliated with Mccune-Albright Syndrome, Somatic, Mosaic

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

Pathways for genes affiliated with Mccune-Albright Syndrome, Somatic, Mosaic

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

(show all 29)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9GH1, PRL
29.8GNAS, PRKAR1A
39.5GNA11, LHCGR
49.4APC, GNAS, PRKAR1A
59.2GNA11, GNAS, LHCGR
6
Show member pathways
9.2GNA11, GNAS, PRKAR1A
7
Show member pathways
9.2GNA11, GNAS, PRKAR1A
8
Show member pathways
9.2GNA11, GNAS, PRKAR1A
99.2GNA11, GNAS, PRKAR1A
109.0GNAS, IGF1, LHCGR
11
Show member pathways
9.0GNAS, IGF1, PRKAR1A
12
Show member pathways
8.8GH1, GNA11, GNAS, PRKAR1A
138.7GNA11, GNAS, IGF1
148.5FGF23, GH1, IGF1, PRL
15
Show member pathways
8.4FGF23, GH1, IGF1, PRKAR1A
16
Show member pathways
8.3GNA11, GNAS, IGF1, PRKAR1A
17
Show member pathways
8.3GNA11, GNAS, IGF1, PRKAR1A
18
Show member pathways
8.3FGF23, GNA11, GNAS, LHCGR, PRKAR1A
19
Show member pathways
7.9FGF23, GH1, GNA11, GNAS, IGF1
207.9APC, FGF23, GNA11, GNAS, IGF1
21
Show member pathways
7.8APC, FGF23, GH1, GNAS, IGF1, PRKAR1A
22
Show member pathways
7.7GH1, GNA11, GNAS, IGF1, PRKAR1A, PRL
23
Show member pathways
7.6FGF23, GH1, GNA11, GNAS, IGF1, PRL
247.5FGF23, GH1, GNA11, GNAS, IGF1, PRKAR1A
25
Show member pathways
7.5FGF23, GH1, GNA11, GNAS, IGF1, PRKAR1A
26
Show member pathways
7.5FGF23, GH1, GNA11, GNAS, IGF1, PRKAR1A
27
Show member pathways
7.5FGF23, GH1, GNA11, GNAS, IGF1, PRKAR1A
28
Show member pathways
7.2APC, FGF23, GH1, GNA11, GNAS, IGF1
29
Show member pathways
6.0APC, FGF23, GH1, GNA11, GNAS, IGF1

GO Terms for genes affiliated with Mccune-Albright Syndrome, Somatic, Mosaic

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.9GH1, PRL
2negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:00457369.9APC, MEN1
3negative regulation of osteoblast differentiationGO:00456689.8FGF23, MEN1
4positive regulation of JAK-STAT cascadeGO:00464279.8GH1, PRL
5positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.7GH1, IGF1
6cognitionGO:00508909.5GNAS, LHCGR
7positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.5GH1, IGF1
8regulation of multicellular organism growthGO:00400149.4IGF1, PRL

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

idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:000514810.4GH1, PRL
2G-protein beta/gamma-subunit complex bindingGO:00316839.9GNA11, GNAS
3insulin-like growth factor receptor bindingGO:00051599.8GNAS, IGF1
4growth factor activityGO:00080838.8FGF23, GH1, IGF1
5hormone activityGO:00051798.7GH1, IGF1, PRL

Sources for Mccune-Albright Syndrome, Somatic, Mosaic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet