MCID: MCC010
MIFTS: 57

Mccune-Albright Syndrome, Somatic, Mosaic malady

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

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

About this section
Sources:
49OMIM, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 36MeSH, 23Genetics Home Reference, 68Wikipedia, 22GeneTests, 11diseasecard, 67UniProtKB/Swiss-Prot, 24GTR, 47Novoseek, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Mccune-Albright Syndrome, Somatic, Mosaic 49
Mccune-Albright Syndrome 11 68 22 23 51 67 24 65
Polyostotic Fibrous Dysplasia 10 68 22 23 51 65
Mas 45 22 23 67
Osteitis Fibrosa Disseminata 10 23 65
Fibrous Dysplasia of Bone 10 51 36
Mccune Albright Syndrome 10 45 12
Albright's Disease 45 23
Albright Syndrome 45 23
Pofd 45 23
Pfd 45 23
 
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 23
Gonadotropin-Independent Female-Limited Sexual Precocity 51
Albright's Syndrome with Precocious Puberty 23
Albright-Mccune-Sternberg Syndrome 23
Fibrous Dysplasia, Polyostotic 36
Macrophage Activation Syndrome 65
Properdin Deficiency, X-Linked 65
Fibrous Dysplasia Polyostotic 47
Albright-Sternberg Syndrome 23
Albright's Disease of Bone 23
Albright's Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
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:

61
mccune-albright syndrome, somatic, mosaic:
Onset and clinical course: phenotypic variability
Inheritance: somatic mosaicism


Classifications:



External Ids:

OMIM49 174800
Disease Ontology10 DOID:1858
ICD1027 Q78.1
ICD9CM29 756.54
NCIt42 C34610
Orphanet51 562, 249, 93276
ICD10 via Orphanet28 Q78.1
MESH via Orphanet37 D005359, D005357
UMLS via Orphanet66 C0242292, C0016063, C0016065
UMLS65 C0016063, C0016065, C0242292 C1096155, C1839454, more

Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

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NIH Rare Diseases:45 Mccune-albright syndrome (mas) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. it is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). mas is caused by a change (mutation) in the gnas gene that occurs by chance very early in development. as a result, some of the body's cells have a normal version of the gnas gene, while other cells have the mutated version. this phenomenon is called mosaicism. the severity of mas and its features depend on the number and location of cells that have the mutated gnas gene. because mas occurs by chance, it is not inherited or passed down from one generation to the next. last updated: 12/15/2015

MalaCards based summary: Mccune-Albright Syndrome, Somatic, Mosaic, also known as mccune-albright syndrome, is related to fibrous dysplasia/mccune-albright syndrome and forbes albright syndrome, and has symptoms including generalized hyperpigmentation, reduced bone mineral density and recurrent fractures. 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 Arf6 signaling events. Affiliated tissues include bone, skin and pituitary, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.

Disease Ontology:10 An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.

Genetics Home Reference:23 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

OMIM:49 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...

UniProtKB/Swiss-Prot:67 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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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

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Symptoms by clinical synopsis from OMIM:

174800

Clinical features from OMIM:

174800

Symptoms:

 51 (show all 35)
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • cafe-au-lait spot
  • precocious puberty
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • mutiple fractures/bone fragility
  • bone pain
  • hypophosphatemia
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • face/facial anomalies
  • prognathism/prognathia
  • dental malocclusion
  • anomalies of eyes and vision
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • palate anomalies
  • anomalies of teeth and dentition
  • enamel anomaly
  • multiple caries
  • anomalies of ear and hearing
  • kyphosis
  • abnormal hepatic enzymes/transaminases
  • abnormal/polycystic ovaries
  • macropenis/megapenis/large penis
  • macroorchidism/macrotestes
  • goiter
  • hyperthyroidy
  • hyperparathyroidy
  • cortico-adrenal hyperplasia/hypersecretion
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • breast neoplasm/tumor/carcinoma/cancer
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • thyroid neoplasm/tumor/carcinoma/cancer
  • sarcoma
  • tall stature/gigantism/growth acceleration
  • cushingoid morphotype

HPO human phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:

(show all 46)
id Description Frequency HPO Source Accession
1 generalized hyperpigmentation hallmark (90%) HP:0007440
2 reduced bone mineral density hallmark (90%) HP:0004349
3 recurrent fractures hallmark (90%) HP:0002757
4 bone pain hallmark (90%) HP:0002653
5 skeletal dysplasia hallmark (90%) HP:0002652
6 hypophosphatemia hallmark (90%) HP:0002148
7 cafe-au-lait spot hallmark (90%) HP:0000957
8 precocious puberty hallmark (90%) HP:0000826
9 sarcoma occasional (7.5%) HP:0100242
10 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
11 neoplasm of the breast occasional (7.5%) HP:0100013
12 testicular neoplasm occasional (7.5%) HP:0010788
13 elevated hepatic transaminases occasional (7.5%) HP:0002910
14 kyphosis occasional (7.5%) HP:0002808
15 abnormality of coagulation occasional (7.5%) HP:0001928
16 hypercortisolism occasional (7.5%) HP:0001578
17 goiter occasional (7.5%) HP:0000853
18 hyperparathyroidism occasional (7.5%) HP:0000843
19 hyperthyroidism occasional (7.5%) HP:0000836
20 dental malocclusion occasional (7.5%) HP:0000689
21 abnormality of dental enamel occasional (7.5%) HP:0000682
22 carious teeth occasional (7.5%) HP:0000670
23 optic atrophy occasional (7.5%) HP:0000648
24 hearing abnormality occasional (7.5%) HP:0000364
25 mandibular prognathia occasional (7.5%) HP:0000303
26 macrocephaly occasional (7.5%) HP:0000256
27 abnormality of the palate occasional (7.5%) HP:0000174
28 polycystic ovaries occasional (7.5%) HP:0000147
29 tall stature occasional (7.5%) HP:0000098
30 macroorchidism occasional (7.5%) HP:0000053
31 long penis occasional (7.5%) HP:0000040
32 intestinal polyposis HP:0200008
33 polyostotic fibrous dysplasia HP:0010735
34 large cafe-au-lait macules with irregular margins HP:0005605
35 craniofacial hyperostosis HP:0004493
36 pituitary adenoma HP:0002893
37 pathologic fracture HP:0002756
38 hypercortisolism HP:0001578
39 prolactin excess HP:0000870
40 growth hormone excess HP:0000845
41 hyperparathyroidism HP:0000843
42 hyperthyroidism HP:0000836
43 precocious puberty HP:0000826
44 blindness HP:0000618
45 hearing impairment HP:0000365
46 facial asymmetry HP:0000324

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 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etidronic acidapprovedPhase 2, Phase 3427414-83-73305
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-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
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
ethane-1-hydroxy-1,1-bisphosphonic acid
etidronate
2HormonesPhase 3, Phase 2, Phase 111748
3Bone Density Conservation AgentsPhase 2, Phase 32600
4DiphosphonatesPhase 2, Phase 3381
5Risedronate SodiumPhase 2, Phase 398115436-72-1
6Calcium, DietaryPhase 2, Phase 34678
7calcium channel blockersPhase 2, Phase 31743
8
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
9
AlendronateapprovedPhase 2155121268-17-5, 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)
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
66376-36-1
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
Binosto
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
10
Anastrozoleapproved, investigationalPhase 2262120511-73-12187
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
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
11
Fulvestrantapproved, investigationalPhase 2173129453-61-8104741, 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
SID29215034
UNII-22X328QOC4
ZD 182780
ZD-182780
ZD-9238
ZM 182780
ZM-182780
fulvestrant
nchembio.168-comp5
nchembio.76-comp5
nchembio775-comp4
12Hormone AntagonistsPhase 2, Phase 110002
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 19988
14EstrogensPhase 2, Phase 12144
15Antineoplastic Agents, HormonalPhase 24256
16Aromatase InhibitorsPhase 2, Phase 1721
17Estrogen AntagonistsPhase 2, Phase 11155
18
Letrozoleapproved, investigationalPhase 1358112809-51-53902
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
19
Histamine Phosphateapproved90651-74-165513
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 Positive Skin Test Control
Histamine Positive skin test control
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
20Neurotransmitter Agents14795
21
histamine90675614-87-8, 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

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright SyndromeCompletedNCT00017927Phase 3
2Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of BoneRecruitingNCT00445575Phase 2, Phase 3
3Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeCompletedNCT00001728Phase 2
4Testolactone for the Treatment of Girls With LHRH Resistant Precocious PubertyCompletedNCT00001181Phase 2
5Arimidex in McCune Albright SyndromeCompletedNCT00055302Phase 2
6TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONERecruitingNCT01791842Phase 2
7Faslodex in McCune Albright SyndromeActive, not recruitingNCT00278915Phase 2
8PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright SyndromeSuspendedNCT02743377Phase 1, Phase 2
9Effects of Letrozole on Precocious Puberty Due to McCune Albright SyndromeCompletedNCT00006174Phase 1
10Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright SyndromeCompletedNCT00001973
11Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeCompletedNCT00001851
12The Influence of Bisphosphonates in the Oral Cavity in ChildrenCompletedNCT00402064
13Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeRecruitingNCT00001727
14Histamine Responsiveness in McCune-Albright SyndromeRecruitingNCT00318097
15Genetic and Functional Analysis of CherubismRecruitingNCT01630447
16Natural History of Cherubism Observational StudyRecruitingNCT01916772
17Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyRecruitingNCT01902420

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

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

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome22 GNAS

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

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

33
Bone, Skin, Pituitary, Thyroid, Ovary, Breast, Eye

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:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6APC, FGF23, GNA11, GNAS, LHCGR
2MP:00053708.5APC, GNA11, GNAS, MEN1, PRL
3MP:00053678.5APC, FGF23, GNA11, GNAS, LHCGR
4MP:00107718.2APC, FGF23, GNA11, GNAS, PRKAR1B, PRL
5MP:00053698.1APC, GNA11, GNAS, MEN1, PRKAR1A
6MP:00053818.0APC, FGF23, LHCGR, MEN1, PRKAR1A
7MP:00053828.0APC, GNA11, GNAS, MEN1, PRKAR1A
8MP:00053907.8APC, FGF23, GNA11, GNAS, LHCGR, PRKAR1A
9MP:00053897.8APC, FGF23, LHCGR, MEN1, PRKAR1A, PRL
10MP:00053857.3APC, FGF23, GNA11, GNAS, MEN1, PRKAR1A
11MP:00053797.1APC, FGF23, GNA11, GNAS, LHCGR, MEN1
12MP:00053766.8APC, FGF23, GNA11, GNAS, LHCGR, MEN1
13MP:00053875.8APC, FGF23, GNA11, GNAS, LHCGR, MEN1

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:

67
id Symbol AA change Variation ID SNP ID
1GNASp.Arg201HisVAR_003441
2GNASp.Arg201CysVAR_003442rs11554273
3GNASp.Arg201GlyVAR_017844

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)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_000516.5(GNAS): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_000516.5(GNAS): c.680A> G (p.Gln227Arg)single nucleotide variantPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
4GNASNM_000516.5(GNAS): c.601C> A (p.Arg201Ser)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
5GNASNM_000516.5(GNAS): c.601C> G (p.Arg201Gly)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
6GNASNM_000516.5(GNAS): c.602G> T (p.Arg201Leu)single nucleotide variantPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
7GNASNM_000516.5(GNAS): c.679C> A (p.Gln227Lys)single nucleotide variantPathogenicrs797045203GRCh38Chr 20, 58909540: 58909540
8GNASNM_000516.5(GNAS): c.680A> T (p.Gln227Leu)single nucleotide variantPathogenicrs121913494GRCh38Chr 20, 58909541: 58909541
9GNASNM_000516.5(GNAS): c.681G> T (p.Gln227His)single nucleotide variantPathogenicrs137854533GRCh38Chr 20, 58909542: 58909542

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 41)
idSuper pathwaysScoreTop Affiliating Genes
19.8GH1, PRL
29.5GNA11, LHCGR
39.5PRKAR1A, PRKAR1B
49.5PRKAR1A, PRKAR1B
59.5PRKAR1A, PRKAR1B
69.3APC, MEN1
79.3APC, GNA11, GNAS
89.2GNA11, GNAS, LHCGR
99.2GNAS, PRKAR1A, PRKAR1B
10
Show member pathways
9.2GNAS, PRKAR1A, PRKAR1B
11
Show member pathways
9.2GNAS, PRKAR1A, PRKAR1B
129.2GNAS, PRKAR1A, PRKAR1B
13
Show member pathways
9.2GNAS, PRKAR1A, PRKAR1B
149.2GNAS, PRKAR1A, PRKAR1B
15
Show member pathways
9.2GNAS, PRKAR1A, PRKAR1B
16
Show member pathways
9.0GNA11, PRKAR1A, PRKAR1B
178.8APC, GNAS, PRKAR1A, PRKAR1B
18
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
19
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
20
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
21
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
22
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
23
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
24
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
25
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
26
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
27
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
28
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
298.7GNA11, GNAS, PRKAR1A, PRKAR1B
30
Show member pathways
8.7GNA11, GNAS, PRKAR1A, PRKAR1B
318.7APC, FGF23, GNA11, GNAS
32
Show member pathways
8.5GH1, GNAS, PRKAR1A, PRKAR1B, PRL
33
Show member pathways
8.5FGF23, GH1, PRKAR1A, PRKAR1B
34
Show member pathways
8.3GH1, GNA11, GNAS, PRKAR1A, PRKAR1B
35
Show member pathways
7.9APC, FGF23, GH1, GNAS, PRKAR1A, PRKAR1B
36
Show member pathways
7.7FGF23, GH1, GNA11, GNAS, PRKAR1A, PRKAR1B
37
Show member pathways
7.7FGF23, GH1, GNA11, GNAS, PRKAR1A, PRKAR1B
38
Show member pathways
7.7FGF23, GH1, GNA11, GNAS, PRKAR1A, PRKAR1B
39
Show member pathways
7.6FGF23, GNA11, GNAS, LHCGR, PRKAR1A, PRKAR1B
40
Show member pathways
7.3APC, FGF23, GH1, GNA11, GNAS, PRKAR1A
41
Show member pathways
5.8APC, FGF23, GH1, GNA11, GNAS, LHCGR

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

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

idNameGO IDScoreTop Affiliating Genes
1ciliary baseGO:00975469.5PRKAR1A, PRKAR1B

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of JAK-STAT cascadeGO:004642710.2GH1, PRL
2negative regulation of cAMP-dependent protein kinase activityGO:200048010.1PRKAR1A, PRKAR1B
3renal water homeostasisGO:00030919.7PRKAR1A, PRKAR1B
4regulation of insulin secretionGO:00507969.7GNAS, PRKAR1A
5water transportGO:00068339.6PRKAR1A, PRKAR1B
6cellular response to glucagon stimulusGO:00713779.6GNAS, PRKAR1A, PRKAR1B
7energy reserve metabolic processGO:00061129.2GNAS, PRKAR1A, PRKAR1B
8epidermal growth factor receptor signaling pathwayGO:00071739.0FGF23, PRKAR1A, PRKAR1B
9fibroblast growth factor receptor signaling pathwayGO:00085438.6FGF23, PRKAR1A, PRKAR1B

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

idNameGO IDScoreTop Affiliating Genes
1G-protein beta/gamma-subunit complex bindingGO:00316839.7GNA11, GNAS

Sources for Mccune-Albright Syndrome, Somatic, Mosaic

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet