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:
50OMIM, 66UMLS, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 11Disease Ontology, 13DISEASES, 25GTR, 37MeSH, 48Novoseek, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Mccune-Albright Syndrome, Somatic, Mosaic 50
Mccune-Albright Syndrome 50 69 46 23 24 52 68 12 66
Polyostotic Fibrous Dysplasia 11 46 23 24 52 66
Mccune Albright Syndrome 11 46 13 25
Mas 46 23 24 68
Osteitis Fibrosa Disseminata 11 24 66
Fibrous Dysplasia of Bone 11 52 37
Albright's Disease 46 24
Albright Syndrome 46 24
Pofd 46 24
Pfd 46 24
 
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 24
Gonadotropin-Independent Female-Limited Sexual Precocity 52
Albright's Syndrome with Precocious Puberty 24
Albright-Mccune-Sternberg Syndrome 24
Properdin Deficiency, X-Linked 66
Fibrous Dysplasia, Polyostotic 37
Macrophage Activation Syndrome 66
Fibrous Dysplasia Polyostotic 48
Albright-Sternberg Syndrome 24
Albright's Disease of Bone 24
Albright's Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
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:

62
mccune-albright syndrome, somatic, mosaic:
Inheritance: somatic mosaicism
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 174800
Disease Ontology11 DOID:1858
ICD1028 Q78.1
ICD9CM30 756.54
NCIt43 C34610
ICD10 via Orphanet29 Q78.1
MESH via Orphanet38 D005359, D005357
UMLS via Orphanet67 C0242292, C0016063, C0016065

Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

About this section
NIH Rare Diseases:46 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 prolactinoma and fibrous dysplasia/mccune-albright syndrome, 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 Transcription_CREM signaling in testis and Arf6 signaling events. Affiliated tissues include bone, skin and pituitary, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:11 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:24 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

OMIM:50 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...

UniProtKB/Swiss-Prot:68 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

About this section

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1prolactinoma30.4IGF1, POMC
2fibrous dysplasia/mccune-albright syndrome12.4
3forbes albright syndrome12.2
4osteitis fibrosa11.7
5fibrous dysplasia11.4
6properdin deficiency, x-linked11.1
7pseudoinflammatory fundus dystrophy11.1
8gigantism11.0
9precocious puberty10.8
10acromegaly10.7
11adenoma10.6
12hyperthyroidism10.6
13pituitary adenoma10.6
14thyroiditis10.5
15sensory peripheral neuropathy10.5FGF23, GNAS
16vacterl association10.4GNAS, PRKAR1A
17epilepsy idiopathic generalized 810.4GNA11, PRKAR1A
18malignant spindle cell melanoma10.4MEN1, PRKAR1A
19angelucci's syndrome10.4FGF23, MEN1
20ovarian cyst10.4
21als2-related disorders10.3AIP, GNAS
22loeys-dietz syndrome10.3FGF23, GNAS
23testicular microlithiasis10.3
24hyperprolactinemia10.3
25hypophosphatemia10.3
26rickets10.3
27hyperparathyroidism10.3
28neuropathy10.3
29pituitary adenoma, growth hormone-secreting10.3
30carney complex, type 110.3
31brugada syndrome10.3FGF23, IGF1
32lethal arteriopathy syndrome due to fibulin-4 deficiency10.3AIP, MEN1
33medich giant platelet syndrome10.3AIP, MEN1
34carcinoma of the vocal tract10.2IGF1, MEN1
35pseudohypoparathyroidism, type ib10.2GNA11, GNAS, PRKAR1A
36chondrosarcoma10.2
37hypophosphatemic rickets10.2
38scoliosis10.2
39primary hyperparathyroidism10.2
40cushing's syndrome10.2
41hypogonadism10.2
42pseudohypoparathyroidism10.2
43pancreatitis10.2
44hypogonadotropism10.2
45mazabraud syndrome10.2
46primary biliary cholangitis10.2GNAS, IGF1, LHCGR
47multiple mitochondrial dysfunctions syndrome10.2IGF1, POMC
48fumarate hydratase deficiency10.1GNAS, PRL
49persistent hyperplastic primary vitreous10.1GNAS, POMC, PRKAR1A
50corpus luteum cyst10.1IGF1, POMC

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

Symptoms:

 52 (show all 35)
  • long penis
  • macroorchidism
  • tall stature
  • polycystic ovaries
  • abnormality of the teeth
  • abnormality of the palate
  • macrocephaly
  • abnormality of the face
  • mandibular prognathia
  • hearing abnormality
  • abnormality of the eye
  • abnormality of vision
  • optic atrophy
  • carious teeth
  • abnormality of dental enamel
  • precocious puberty
  • hyperthyroidism
  • hyperparathyroidism
  • goiter
  • hypercortisolism
  • hypophosphatemia
  • skeletal dysplasia
  • bone pain
  • recurrent fractures
  • kyphosis
  • elevated hepatic transaminases
  • prolonged bleeding time
  • reduced bone mineral density
  • generalized hyperpigmentation
  • multiple cafe-au-lait spots
  • testicular neoplasm
  • open bite
  • neoplasm of the breast
  • neoplasm of the thyroid gland
  • sarcoma

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

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

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


decreased libido, increased libido, pigmentation lip

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

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Risedronate SodiumPhase 2, Phase 398115436-72-1
2
Etidronic acidPhase 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
3calcium channel blockersPhase 2, Phase 31889
4
AnastrozolePhase 2266120511-73-12187
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
5
TestolactonePhase 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
6
AlendronatePhase 2157121268-17-5, 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
7
FulvestrantPhase 2182129453-61-8104741, 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
8
LetrozolePhase 1368112809-51-53902
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
9
Histamine Phosphate100851-74-165513
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
10
histamine100975614-87-8, 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 18)
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
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
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
13Interest of Serum Periostin Dosage in Patients With Bone Fibrous DysplasiaRecruitingNCT02868645
14Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright SyndromeRecruitingNCT00001727
15Histamine Responsiveness in McCune-Albright SyndromeRecruitingNCT00318097
16Genetic and Functional Analysis of CherubismRecruitingNCT01630447
17Natural History of Cherubism Observational StudyRecruitingNCT01916772
18Aryl 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, polyostotic

Genetic Tests for Mccune-Albright Syndrome, Somatic, Mosaic

About this section

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

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome25 23 GNAS

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

About this section

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

34
Bone, Skin, Pituitary, Thyroid, Eye, Ovary, Brain

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

About this section

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

39 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8FGF23, GNA11, GNAS, IGF1, PRKAR1A
2MP:00053698.8GNA11, GNAS, IGF1, MEN1, PRKAR1A
3MP:00053758.7GNAS, IGF1, LHCGR, POMC, PRKAR1A
4MP:00053718.2FGF23, GNA11, GNAS, IGF1, LHCGR
5MP:00053908.2FGF23, GNA11, GNAS, IGF1, LHCGR, PRKAR1A
6MP:00053898.1FGF23, IGF1, LHCGR, MEN1, PRKAR1A, PRL
7MP:00053678.0FGF23, GNA11, GNAS, IGF1, LHCGR, POMC
8MP:00053977.9FGF23, GNA11, GNAS, IGF1, LHCGR, POMC
9MP:00053707.9AIP, GNA11, GNAS, MEN1, POMC, PRL
10MP:00053847.8AIP, GNAS, IGF1, LHCGR, MEN1, POMC
11MP:00107717.4AIP, FGF23, GNA11, GNAS, IGF1, POMC
12MP:00020067.2AIP, GNAS, IGF1, MEN1, POMC, PRKAR1A
13MP:00107687.1AIP, FGF23, GNA11, GNAS, IGF1, MEN1
14MP:00053857.1AIP, FGF23, GNA11, GNAS, IGF1, MEN1
15MP:00053876.8FGF23, GNA11, GNAS, IGF1, LHCGR, MEN1
16MP:00053786.6AIP, FGF23, GNA11, GNAS, IGF1, LHCGR
17MP:00053795.9AIP, FGF23, GNA11, GNAS, IGF1, LHCGR
18MP:00053765.7AIP, FGF23, GNA11, GNAS, IGF1, LHCGR

Publications for Mccune-Albright Syndrome, Somatic, Mosaic

About this section

Variations for Mccune-Albright Syndrome, Somatic, Mosaic

About this section

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

68
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)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 variantPathogenicrs121913495GRCh38Chr 20, 58909366: 58909366
7GNASNM_000516.5(GNAS): c.679C> A (p.Gln227Lys)single nucleotide variantPathogenicrs797045203GRCh37Chr 20, 57484595: 57484595
8GNASNM_000516.5(GNAS): c.680A> T (p.Gln227Leu)single nucleotide variantPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
9GNASNM_000516.5(GNAS): c.681G> T (p.Gln227His)single nucleotide variantPathogenicrs137854533GRCh37Chr 20, 57484597: 57484597

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

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

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

About this section

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

(show all 26)
idSuper pathwaysScoreTop Affiliating Genes
19.8GNAS, PRKAR1A
29.7GNA11, LHCGR
39.6POMC, PRKAR1A
49.4GNA11, GNAS, LHCGR
59.4GNA11, GNAS, PRKAR1A
6
Show member pathways
9.4GNA11, GNAS, PRKAR1A
7
Show member pathways
9.4GNA11, GNAS, PRKAR1A
8
Show member pathways
9.4GNA11, GNAS, PRKAR1A
9
Show member pathways
9.4GNA11, GNAS, PRKAR1A
10
Show member pathways
9.4GNA11, GNAS, PRKAR1A
11
Show member pathways
9.4GNA11, GNAS, PRKAR1A
129.3GNAS, IGF1, LHCGR
139.3GNAS, LHCGR, POMC
14
Show member pathways
9.3GNAS, IGF1, PRKAR1A
159.2GNA11, GNAS, IGF1
169.2GNA11, GNAS, POMC
17
Show member pathways
8.9GNA11, GNAS, IGF1, PRKAR1A
18
Show member pathways
8.9GNA11, GNAS, IGF1, PRKAR1A
19
Show member pathways
8.9GNA11, GNAS, POMC, PRKAR1A
208.8FGF23, GNA11, GNAS, IGF1
218.5FGF23, GNA11, GNAS, IGF1, PRKAR1A
22
Show member pathways
8.5FGF23, GNA11, GNAS, IGF1, PRKAR1A
23
Show member pathways
8.5FGF23, GNA11, GNAS, IGF1, PRKAR1A
24
Show member pathways
8.2FGF23, GNA11, GNAS, LHCGR, POMC, PRKAR1A
25
Show member pathways
8.0GNA11, GNAS, IGF1, PRKAR1A, PRL
26
Show member pathways
6.4FGF23, GNA11, GNAS, IGF1, LHCGR, MEN1

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of osteoblast differentiationGO:00456689.9FGF23, MEN1
2cognitionGO:00508909.6GNAS, LHCGR
3regulation of multicellular organism growthGO:00400149.1IGF1, PRL

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:000515910.1GNAS, IGF1
2G-protein beta/gamma-subunit complex bindingGO:003168310.1GNA11, GNAS
3signal transducer activityGO:00048719.1AIP, GNA11, GNAS
4hormone activityGO:00051798.8IGF1, POMC, PRL

Sources for Mccune-Albright Syndrome, Somatic, Mosaic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet