Mccune-Albright Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MAS MCID: MCC012 MIFTS: 66	Mccune-Albright Syndrome (MAS) Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Mccune-Albright Syndrome

MalaCards integrated aliases for Mccune-Albright Syndrome:

Name: Mccune-Albright Syndrome ⁵⁷ ⁷⁶ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Polyostotic Fibrous Dysplasia ¹² ⁷⁶ ⁵³ ²⁵ ⁵⁹ ⁷³

Fibrous Dysplasia of Bone ¹² ⁷⁶ ⁵⁹ ⁴⁴

Mas ⁵⁷ ⁵³ ²⁵ ⁷⁵

Osteitis Fibrosa Disseminata ¹² ²⁵ ⁷³

Mccune Albright Syndrome ¹² ⁵³ ¹⁵

Albright Syndrome ⁵⁷ ⁵³ ²⁵

Fibrous Dysplasia, Polyostotic ³⁷ ⁴⁴

Albright's Syndrome ⁷⁶ ²⁵

Albright's Disease ⁵³ ²⁵

Pofd ⁵³ ²⁵

Pfd ⁵³ ²⁵

Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty ²⁵

Gonadotropin-Independent Female-Limited Sexual Precocity ⁵⁹

Albright's Syndrome with Precocious Puberty ²⁵

Mccune-Albright Syndrome, Somatic, Mosaic ⁵⁷

Albright-Mccune-Sternberg Syndrome ²⁵

Fibrous Dysplasia Polyostotic ⁵⁵

Albright-Sternberg Syndrome ²⁵

Mccune-Albright Syndrome ) ⁴⁰

Albright's Disease of Bone ²⁵

Mccunealbright Syndrome ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁵⁹

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;

OMIM:

⁵⁷

Miscellaneous:
variable phenotype
activating or gain-of-function gnas1 mutations in patients with the mccune-albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues

Inheritance:
somatic mosaicism

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Bone diseases Skin diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Polyostotic fibrous dysplasia

Orphanet: ⁵⁹

Rare gynaecological and obstetric diseases

Rare bone diseases

Rare skin diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 174800

Disease Ontology ¹² DOID:1858

ICD10 ³³ Q78.1

ICD9CM ³⁵ 756.54

MeSH ⁴⁴ D005357 D005359

NCIt ⁵⁰ C34610

SNOMED-CT ⁶⁸ 10623005 36517007

Orphanet ⁵⁹ ORPHA562 ORPHA249 ORPHA93276

UMLS via Orphanet ⁷⁴ C0242292 C0016063 C0016065

ICD10 via Orphanet ³⁴ Q78.1

MESH via Orphanet ⁴⁵ D005359 D005357

MedGen ⁴² C0242292 C0016065

KEGG ³⁷ H00501

SNOMED-CT via HPO ⁶⁹ 88673001 248328003 69878008 more

UMLS ⁷³ C0016063 C0016065 C0242292

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Summaries for Mccune-Albright Syndrome

NIH Rare Diseases : ⁵³ McCune-Albright syndrome (MAS) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). Cafe-au-lait spots of the skin are common and are usually the first apparent sign of MAS. The main skeletal feature is fibrous dysplasia, which ranges in severity and can cause various complications. Early skeletal symptoms may include limping, pain, or fracture. Endocrinous features may include precocious puberty especially in girls (resulting of estrogen excess from ovarian cysts), excess growth hormone; thyroid lesions with possible hyperthyroidism; renal phosphate wasting, and, rarely, Cushing syndrome caused by an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. MAS is not inherited. MAS is caused by a somatic 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.

MalaCards based summary : Mccune-Albright Syndrome, also known as polyostotic fibrous dysplasia, is related to fibrous dysplasia/mccune-albright syndrome and gigantism. An important gene associated with Mccune-Albright Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Pathways in cancer. The drugs Etidronic acid and Risedronate Sodium have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related phenotypes are macrocephaly and precocious puberty

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

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

OMIM : ⁵⁷ Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004). (174800)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Wikipedia : ⁷⁶ McCune�??Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine... more...

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Related Diseases for Mccune-Albright Syndrome

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

(show top 50) (show all 196)

#	Related Disease	Score	Top Affiliating Genes
1	fibrous dysplasia/mccune-albright syndrome	34.2	PRL GH1
2	gigantism	32.9	PRL GH1
3	osteitis fibrosa	32.8	GNAS BGLAP
4	precocious puberty	31.6	GNAS GH1 CYP19A1
5	osteofibrous dysplasia	31.5	BGLAP GNAS
6	fibrous dysplasia	31.4	SST PRL IGF1 IBSP GNAS GH1
7	acromegaly	31.0	SST PRL IGF1 GNAS GH1
8	testotoxicosis	30.6	GNAS CYP19A1
9	hypothalamic disease	30.6	PRL GH1
10	galactorrhea	30.5	PRL IGF1
11	chromophobe adenoma	30.5	GH1 PRL
12	hyperthyroidism	30.4	SST PRL GNAS GH1 BGLAP
13	adenoma	30.4	SST PRL IGF1 GNAS GH1 APC
14	hyperprolactinemia	30.4	SST PRL IGF1 GH1
15	pseudohypoparathyroidism	30.3	GNAS BGLAP APC
16	conn's syndrome	30.3	SST PRL GNAS GH1
17	ovarian disease	30.3	PRL IGF1 CYP19A1 AMH
18	primary hyperparathyroidism	30.3	PRL FGF23 BGLAP
19	multiple endocrine neoplasia, type i	30.2	SST PRL GNAS
20	empty sella syndrome	30.2	PRL IGF1 GH1
21	hypothyroidism	30.2	PRL IGF1 GNAS GH1
22	bone disease	29.6	IGF1 IBSP FGF23 CYP19A1 BGLAP
23	osteoporosis	29.3	IGF1 IBSP GH1 FGF23 CYP19A1 BGLAP
24	properdin deficiency, x-linked	11.8
25	acth-independent macronodular adrenal hyperplasia	11.7
26	carney complex, type 1	11.4
27	legius syndrome	11.4
28	autosomal dominant café au lait spots	11.4
29	fundus dystrophy, pseudoinflammatory, recessive form	11.2
30	pseudoinflammatory fundus dystrophy	11.2
31	amenorrhea-galactorrhea syndrome	11.0
32	pituitary adenoma	10.6
33	ovarian cyst	10.5
34	carney complex variant	10.4
35	testicular microlithiasis	10.4
36	hypophosphatemia	10.4
37	scoliosis	10.4
38	rickets	10.4
39	hyperparathyroidism	10.4
40	optic nerve disease	10.4
41	neuropathy	10.4
42	mazabraud syndrome	10.4
43	chondrosarcoma	10.3
44	hypophosphatemic rickets, x-linked recessive	10.3
45	hypogonadotropic hypogonadism	10.3
46	cholestasis	10.3
47	hypogonadism	10.3
48	sarcoma	10.3
49	adenohypophysitis	10.2	PRL GH1
50	coxa vara	10.2

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

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Symptoms & Phenotypes for Mccune-Albright Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endocrine Features:
precocious puberty
hyperthyroidism
hyperparathyroidism
acromegaly
cushing syndrome
more

Head And Neck Eyes:
blindness

Neoplasia:
pituitary adenoma

Head And Neck Ears:
deafness

Skin Nails Hair Skin:
large cafe au lait spots with irregular margins

Head And Neck Head:
craniofacial hyperostosis
cranial foramen impingement

Skeletal:
pathologic fracture
polyostotic fibrous dysplasia

Head And Neck Face:
facial asymmetry

Abdomen Gastrointestinal:
gastrointestinal polyps

Clinical features from OMIM:

174800

Human phenotypes related to Mccune-Albright Syndrome:

⁵⁹ ³² (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000256
2	precocious puberty ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000826
3	kyphosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002808
4	mandibular prognathia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000303
5	skeletal dysplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002652
6	open bite ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010807
7	macroorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000053
8	carious teeth ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000670
9	optic atrophy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000648
10	hypophosphatemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002148
11	abnormality of vision ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000504
12	hearing abnormality ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000364
13	reduced bone mineral density ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004349
14	hyperthyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000836
15	goiter ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000853
16	polycystic ovaries ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000147
17	multiple cafe-au-lait spots ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007565
18	sarcoma ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100242
19	abnormality of dental enamel ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000682
20	hyperparathyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000843
21	recurrent fractures ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002757
22	bone pain ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002653
23	prolonged bleeding time ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003010
24	long penis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000040
25	generalized hyperpigmentation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007440
26	neoplasm of the thyroid gland ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100031
27	tall stature ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000098
28	testicular neoplasm ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010788
29	neoplasm of the breast ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100013
30	hearing impairment ³²			HP:0000365
31	craniofacial hyperostosis ³²			HP:0004493
32	abnormality of the dentition ⁵⁹		Occasional (29-5%)
33	blindness ³²			HP:0000618
34	abnormality of the eye ⁵⁹		Occasional (29-5%)
35	pathologic fracture ³²			HP:0002756
36	elevated hepatic transaminases ⁵⁹		Occasional (29-5%)
37	abnormality of the face ⁵⁹		Occasional (29-5%)
38	growth hormone excess ³²			HP:0000845
39	pituitary adenoma ³²			HP:0002893
40	hypercortisolism ⁵⁹		Occasional (29-5%)
41	abnormality of the palate ⁵⁹		Occasional (29-5%)
42	facial asymmetry ³²			HP:0000324
43	intestinal polyposis ³²			HP:0200008
44	increased circulating cortisol level ³²	occasional (7.5%)		HP:0003118
45	prolactin excess ³²			HP:0000870
46	polyostotic fibrous dysplasia ³²			HP:0010735
47	elevated hepatic transaminase ³²	occasional (7.5%)		HP:0002910
48	large cafe-au-lait macules with irregular margins ³²			HP:0005605
49	abnormal palate morphology ³²	occasional (7.5%)		HP:0000174

MGI Mouse Phenotypes related to Mccune-Albright Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.03	AMH APC CYP19A1 FGF23 GNAS IGF1
2	immune system	MP:0005387	10.01	APC CYP19A1 FGF23 GNAS IBSP IGF1
3	endocrine/exocrine gland	MP:0005379	10	AMH APC CYP19A1 FGF23 GNAS IGF1
4	integument	MP:0010771	9.85	APC CYP19A1 FGF23 GNAS IGF1 PRL
5	limbs/digits/tail	MP:0005371	9.72	APC FGF23 GNAS IBSP IGF1
6	neoplasm	MP:0002006	9.65	AMH APC GNAS IGF1 PRL
7	renal/urinary system	MP:0005367	9.55	APC CYP19A1 FGF23 GNAS IGF1
8	reproductive system	MP:0005389	9.43	AMH APC CYP19A1 FGF23 IGF1 PRL
9	skeleton	MP:0005390	9.17	APC CYP19A1 FGF23 GNAS IBSP IGF1

Sources

Drugs & Therapeutics for Mccune-Albright Syndrome

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

(show all 26)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Etidronic acid

Approved

Phase 2, Phase 3

7414-83-7, 2809-21-4

3305

Synonyms:

(1-hydroxy-1-phosphonoethyl)phosphonic acid

(1-hydroxyethane-1,1-diyl)bis(phosphonic acid)

(1-Hydroxyethylene)diphosphonate

(1-Hydroxyethylene)diphosphonic acid

(1-Hydroxyethylene)diphosphonic acid, tetrapotassium salt

(1-Hydroxyethylidene)bis(phosphonate)

(1-Hydroxyethylidene)bis(phosphonic acid)

(1-Hydroxyethylidene)bisphosphonate

(1-Hydroxyethylidene)bisphosphonic acid

(1-Hydroxyethylidene)diphoshonic acid

(1-Hydroxyethylidene)diphosphonate

(1-hydroxy-ethylidene)diphosphonic acid

(1-Hydroxyethylidene)diphosphonic acid

(Hydroxyethylidene)diphosphonate

(Hydroxyethylidene)diphosphonic acid

0-02-00-00171 (Beilstein Handbook Reference)

1 Hydroxyethane 1,1 diphosphonate

1 Hydroxyethylidene 1,1 bisphosphonate

1,1 Hydroxyethylenediphosphonate

1,1,1-Ethanetriol diphosphonate

1,1,1-Ethanetriol diphosphonic acid

1,1-Hydroxyethylenediphosphonate

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

1-Hydroxy-1,1-diphosphonoethane

1-HYDROXY-1,1-DIPHOSPHONOETHANE

1-hydroxyethane 1,1-diphosphonic acid

1-Hydroxyethane-1,1,-diphosphonic acid

1-Hydroxyethane-1,1-bisphosphonate

1-Hydroxyethane-1,1-bisphosphonic acid

1-Hydroxyethane-1,1-diphosphonate

1-Hydroxyethane-1,1-diphosphonic acid

1-Hydroxyethanediphosphonate

1-Hydroxyethanediphosphonic acid

1-Hydroxyethylene diphosphonate, disodium

1-Hydroxyethylidene 1,1-diphosphonic acid

1-Hydroxyethylidene-1,1-biphosphonate

1-Hydroxyethylidene-1,1-bisphosphonate

1-Hydroxyethylidene-1,1-bisphosphonic acid

1-Hydroxyethylidene-1,1-diphosphonate

1-Hydroxyethylidene-1,1-diphosphonic acid

1-Hydroxyethylidenediphosphonic acid

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

Acetodiphosphonate

Acetodiphosphonic acid

Acide etidronique

acide étidronique

Acide etidronique [INN-French]

acido Etidronico

Acido etidronico

ácido etidrónico

Acido etidronico [INN-Spanish]

acidum etidronicum

Acidum etidronicum

Acidum etidronicum [INN-Latin]

Bio-0708

BPBio1_000997

BRN 1789291

BSPBio_000905

C07736

CHEBI:170675

CHEBI:4907

CHEMBL871

CID3305

Cintichem Technetium 99m Hedspa

D02373

DB01077

Dequest 2010

Dequest 2015

Dequest Z 010

Dicalcium ehdp

Dicalcium etidronate

Didronel

Didronel IV

Diphosphonate (base)

Diphosphonate, disodium 1-hydroxyethylene

Diphosphonic acid, hydroxyethylidene

Disodium 1 hydroxyethylene diphosphonate

Disodium 1-hydroxyethylene diphosphonate

Disodium etidronate

EHDP

EHDP, dicalcium

EINECS 220-552-8

Ethane-1-hydroxy-1,1-bisphosphonate

ethane-1-hydroxy-1,1-bisphosphonic acid

Ethane-1-hydroxy-1,1-bisphosphonic acid

Ethane-1-hydroxy-1,1-diphosphonate

Ethane-1-hydroxy-1,1-diphosphonic acid

Ethanehydroxydiphosphonate

Ethanehydroxyphosphate

etidronate

Etidronate

Etidronate disodium

Etidronate Disodium

Etidronate, dicalcium

Etidronate, disodium

Etidronate, sodium

Etidronate, tetrapotassium salt

Etidronic acid

Etidronic acid (USAN/INN)

Etidronic acid [USAN:INN:BAN]

Etidronic acid monohydrate

Etidronsaeure

Etidronsäure

Ferrofos 510

H0587

H6773_ALDRICH

H6773_SIGMA

HEDP

HEDSPA

HSDB 5898

Hydroxyethane-1,1-diphosphonic acid

Hydroxyethanediphosphonate

Hydroxyethanediphosphonic acid

Hydroxyethylidene diphosphonic acid

I14-1271

Jsp005415

LS-106637

MLS002207267

MLS002695948

MolPort-001-786-542

MPI Stannous Diphosphonate

NCGC00159352-02

NSC 227995

NSC227995

Osteoscan

Oxyethylidenediphosphonate

Oxyethylidenediphosphonic acid

Phosphonic acid, (1-hydroxyethylidene)bis-, disodium salt

Phosphonic acid, 1-hydroxy-1,1-ethanediyl ester

Prestwick0_000863

Prestwick1_000863

Prestwick2_000863

Prestwick3_000863

RP 61

Salt etidronate, tetrapotassium

SMR000038750

Sodium etidronate

SPBio_002826

STK721995

Tetrapotassium salt etidronate

Turpinal SL

UNII-M2F465ROXU

Xidifon

Xidiphon

Xydiphone

Risedronate Sodium

Phase 2, Phase 3

115436-72-1

Calcium, Dietary

Phase 2, Phase 3

calcium channel blockers

Phase 2, Phase 3

Diphosphonates

Phase 2, Phase 3

Bone Density Conservation Agents

Phase 2, Phase 3

Hormones

Phase 3,Phase 2,Phase 1

Hormone Antagonists

Phase 3,Phase 2,Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 3,Phase 2,Phase 1

Anastrozole

Approved, Investigational

Phase 2

120511-73-1

2187

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-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

a,a,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

AC1L1D49

AC-4234

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

Anastrazole

Anastrole

Anastrozol

anastrozole

Anastrozole (JAN/USAN/INN)

Anastrozole [USAN:INN:BAN]

Arimidex

Arimidex (TN)

Arimidex (Zeneca)

Arimidex, Anastrozole

Asiolex

Astra brand of anastrozole

Astra brand OF anastrozole

AstraZeneca 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

ZD1033

ZD-1033

Zeneca brand of anastrozole

Zeneca brand OF anastrozole

Zeneca ZD 1033

ZINC00000941

α,α,alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

Alendronate

Approved

Phase 2

66376-36-1, 121268-17-5

2088

Synonyms:

(4-amino-1-hydroxy-1-phosphonobutyl)phosphonic acid

(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)

(4-amino-1-Hydroxybutylidene)bisphosphonate

(4-amino-1-hydroxybutylidene)bisphosphonic acid

(4-amino-1-Hydroxybutylidene)bisphosphonic acid

(4-Amino-1-hydroxybutylidene)bisphosphonic acid

(4-Amino-1-hydroxybutylidene)diphosphonic acid

121268-17-5 (mono-hydrochloride salt, trihydrate)

1yhm

4 amino 1 Hydroxybutylidene 1,1 biphosphonate

4-Amino-1-hydroxybutane-1,1-diphosphonate

4-amino-1-hydroxybutane-1,1-diphosphonic acid

4-Amino-1-hydroxybutane-1,1-diphosphonic Acid

4-amino-1-Hydroxybutylidene 1,1-biphosphonate

4-Amino-1-hydroxybutylidene-1,1-bis(phosphonic acid)

4-Amino-1-hydroxybutylidene-1,1-bisphosphonate

66376-36-1

ABDP

AC1L1CW3

Acide alendronique

Acide Alendronique

Acide alendronique [INN-French]

Acide Alendronique [INN-French]

acido Alendronico

Acido alendronico

Acido Alendronico

Acido alendronico [INN-Spanish]

Acido Alendronico [INN-Spanish]

Acidum alendronicum

Acidum Alendronicum

Acidum alendronicum [INN-Latin]

Acidum Alendronicum [INN-Latin]

Adronat

AKOS001015793

alendronate

Alendronate

Alendronate monosodium salt, trihydrate

Alendronate sodium

Alendronate Sodium

ALENDRONATE SODIUM

Alendronate sodium hydrate

Alendronic acid

ALENDRONIC ACID

Alendronic acid (INN)

Alendronic acid [INN:BAN]

Alendros

Aminohydroxybutane bisphosphonate

Arendal

BIDD:GT0180

bisphosphonate, 65

Bisphosphonate, aminohydroxybutane

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

Sodium, alendronate

SPECTRUM1505166

ST50036159

UNII-X1J18R4W8P

Testolactone

Approved, Investigational

Phase 2

968-93-4

13769

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

13,17-Secoandrosta-1,4-dien-17-oic acid, 13.alpha.-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

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-Hydroxy-3-oxo-13,17-secoandrosta-1,4-dien-17-Oate delta-lactone

13-Hydroxy-3-oxo-13,17-secoandrosta-1,4-dien-17-Oate δ-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

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 δ-lactone

13-Hydroxy-3-oxo-13,17-secoandrosta-1,4-dien-17-Oic acid δ-lactone

17alpha-Oxo-D-homo-1,4-androstadiene-3,17-dione

17a-Oxa-D-homoandrosta-1,4-diene-3,17-dione

1-Dehydrotestolactone

1-dehydrotestololactone

1-Dehydrotestololactone

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

Bristol-myers squibb brand OF testolactone

Bristol-Myers Squibb Brand of Testolactone

C02197

C19H24O3

CHEBI:9460

CHEMBL1571

CID13769

D00153

D013738

DB00894

delta(1)-Dehydrotestolactone

delta(1)-Testolactone

delta(1)-testololactone

Delta(1)-testololactone

Delta(1)-Testololactone

Delta-1-testololactone

D-homo-17a-oxaandrosta-1,4-diene-3,17-dione

D-homo-17a-Oxaandrosta-1,4-diene-3,17-dione

D-Homo-17A-oxaandrosta-1,4-diene-3,17-dione

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

Teolit

Teslac

TESLAC (TN)

Teslak

Testolacton

Testolactona

Testolactona [INN-Spanish]

Testolactone

Testolactone (USP/INN)

Testolactone [USAN:INN]

Testolactonum

Testolactonum [INN-Latin]

Testolattone

Testolattone [DCIT]

UNII-6J9BLA949Q

ZINC04081771

δ(1)-testololactone

Δ1-testololactone

Fulvestrant

Approved, Investigational

Phase 2

129453-61-8

17756771 104741

Synonyms:

(7alpha,17beta)-7-{9-[(4,4,5,5,5-pentafluoropentyl)sulfinyl]nonyl}estra-1,3,5(10)-triene-3,17-diol

(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

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

AC1L2XEN

AC-4693

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

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

nchembio.168-comp5

nchembio.76-comp5

nchembio775-comp4

NSC719276

S1191_Selleck

UNII-22X328QOC4

ZD 182780

ZD-182780

ZD-9238

ZM 182780

ZM-182780

Estrogen Antagonists

Phase 2,Phase 1

Aromatase Inhibitors

Phase 2,Phase 1

Estrogens

Phase 2,Phase 1

Steroid Synthesis Inhibitors

Phase 2,Phase 1

Estrogen Receptor Antagonists

Phase 2,Phase 1

Antineoplastic Agents, Hormonal

Phase 2

Phosphodiesterase 4 Inhibitors

Phase 1, Phase 2

Letrozole

Approved, Investigational

Phase 1

112809-51-5

3902

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-ylmethanediyl)dibenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1H-1,2,4-Triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole

4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile

4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile

AB00514009

AC-1193

AC1L1GYT

AKOS005145822

BIDD:GT0015

BIDD:PXR0130

Bio-0057

BPBio1_001331

BRD-K88789588-001-03-2

BSPBio_001209

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

Fémara

Femara (TN)

Femera

HMS1571M11

HMS2051E08

HMS2089L22

HSDB 7461

I06-0022

Letoval

Letrozol

letrozole

Letrozole (JAN/USP/INN)

Letrozole [USAN:INN]

LS-38788

MLS000759455

MLS001424038

MLS002584991

MolPort-003-848-373

NCGC00016973-01

NCGC00016973-02

Novartis brand OF letrozole

Novartis Brand of Letrozole

NSC719345

Prestwick0_001025

Prestwick1_001025

Prestwick2_001025

Prestwick3_001025

S1235_Selleck

SAM001246649

SMR000466343

SPBio_003070

TL8000371

UNII-7LKK855W8I

ZINC03778874

Histamine

Approved, Investigational

51-45-6, 75614-87-8

774

Synonyms:

.beta.-Imidazolyl-4-ethylamine

[3H]histamine

1avn

1H-Imidazole-4-ethanamine

1H-Imidazole-5-ethanamine

1qft

2-(1H-imidazol-4-yl)ethan-1-amine

2-(1H-Imidazol-4-yl)ethanamine

2-(1H-Imidazol-4-yl)ethylamine

2-(1H-imidazol-5-yl)ethanamine

2-(1H-Imidazol-5-yl)ethanamine

2-(1H-Imidazol-5-yl)ethylamine

2-(3H-Imidazol-4-yl)-ethylamine

2-(4-Imidazolyl)ethanamine

2-(4-imidazolyl)ethylamine

2-(4-Imidazolyl)ethylamine

2-[4-Imidazolyl]ethylamine

2-Imidazol-4-ylethylamine

2-Imidazol-4-yl-ethylamine

4-(2-Aminoethyl)-1H-imidazole

4-(2-Aminoethyl)imidazole

4-imidazoleethylamine

4-Imidazoleethylamine

51-45-6

53290_FLUKA

5-imidazoleethylamine

5-Imidazoleethylamine

64422-25-9

924364-91-0

AC-13185

AC1L19ZT

AC1Q54BV

AC1Q54BW

AKOS000274386

ALBB-005968

BCBcMAP01_000250

beta-aminoethylglyoxaline

beta-Aminoethylglyoxaline

beta-aminoethylimidazole

beta-Aminoethylimidazole

beta-aminothethylglyoxaline

beta-Aminothethylglyoxaline

beta-Imidazolyl-4-ethylamine

b-Imidazolyl-4-ethylamine

Bio1_000487

Bio1_000976

Bio1_001465

Bio2_000389

Bio2_000869

bmse000744

BSPBio_001117

BSPBio_002124

C00388

CCRIS 6535

Ceplene

CHEBI:18295

CHEMBL90

CID774

D08040

Dihydrochloride, histamine

DivK1c_000308

EINECS 200-100-6

Eramin

Ergamine

Ergotidine

F411C768-A159-4FC0-A195-291A08BB03AA

Free histamine

H7125_SIGMA

histamine

Histamine (DCF)

Histamine [USAN]

Histamine Base

Histamine dihydrochloride

Histamine hydrochloride

Histamine, Free Base

Histaminum

Histaminum (TN)

HMS1362G19

HMS1792G19

HMS1990G19

HSDB 3338

HSM

Hydrochloride, histamine

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

L000292

L-Histamin base

L-histamine

L-Histamine

Lopac0_000595

Lopac-H-7250

LS-75835

MLS000069447

MolPort-001-785-597

MolPort-002-042-264

NCGC00015513-01

NCGC00015513-08

NCGC00093371-02

NCGC00093371-03

NCGC00093371-04

NCGC00093371-05

nchembio.87-comp54

nchembio714-comp1

NINDS_000308

NSC 33792

NSC33792

Peremin

SDCCGMLS-0066601.P001

SMP1_000151

SMR000059091

SPBio_000729

Spectrum_000845

Spectrum2_000665

Spectrum3_000452

Spectrum4_000960

Spectrum5_000796

ST073926

STK346752

STOCK5S-55669

Theramine

UNII-820484N8I3

WLN: T5M CNJ D2Z

ZERO/004089

Histamine Phosphate

51-74-1

65513

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

LS-78569

UNII-QWB37T4WZZ

Neurotransmitter Agents

insulin

Insulin, Globin Zinc

Interventional clinical trials:

(show all 17)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone	Unknown status	NCT00445575	Phase 2, Phase 3	risedronate;placebo;risedronate;placebo
2	A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome	Completed	NCT00017927	Phase 3	Pegvisomant
3	TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE	Unknown status	NCT01791842	Phase 2	Tocilizumab;Placebo
4	Arimidex in McCune Albright Syndrome	Completed	NCT00055302	Phase 2	Arimidex 1 mg
5	Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome	Completed	NCT00001728	Phase 2	Fosamax (Alendronate)
6	Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty	Completed	NCT00001181	Phase 2	Testolactone
7	PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome	Recruiting	NCT02743377	Phase 1, Phase 2
8	Faslodex in McCune Albright Syndrome	Active, not recruiting	NCT00278915	Phase 2	Fulvestrant
9	Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome	Completed	NCT00006174	Phase 1	Letrozole
10	Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly	Unknown status	NCT01902420
11	Histamine Responsiveness in McCune-Albright Syndrome	Completed	NCT00318097
12	Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome	Completed	NCT00001973
13	Bone Marrow Injection to Replace Diseased Bone in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome	Completed	NCT00001851
14	Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia	Completed	NCT02868645	Not Applicable
15	Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome	Recruiting	NCT00001727
16	Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry	Recruiting	NCT03231644
17	Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome	Recruiting	NCT03520153

Search NIH Clinical Center for Mccune-Albright Syndrome

Cochrane evidence based reviews: fibrous dysplasia of bone

Sources

Genetic Tests for Mccune-Albright Syndrome

Genetic tests related to Mccune-Albright Syndrome:

#	Genetic test	Affiliating Genes
1	Mccune-Albright Syndrome ²⁹	GNAS

Sources

Anatomical Context for Mccune-Albright Syndrome

MalaCards organs/tissues related to Mccune-Albright Syndrome:

⁴¹

Bone, Skin, Pituitary, Thyroid, Kidney, Adrenal Gland, Ovary

Sources

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 577)

#	Title	Authors	Year
1	Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. ( 29669167 )	Berglund J.A....Boyce A.M.	2018
2	Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. ( 29599748 )	Utriainen P....Horemuzova E.	2018
3	Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. ( 29672904 )	Tessaris D....Collins M.T.	2018
4	Airway Management during Thyroidectomy for a Giant Goitre due to McCune-Albright Syndrome. ( 29854469 )	Nakao H.	2018
5	Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome. ( 29071359 )		2018
6	Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome. ( 29991465 )	Coles N...Hamilton J	2018
7	Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit. ( 29976033 )	Cruz-Ferreira AM	2018
8	Craniofacial polyostotic fibrous dysplasia: imaging findings. ( 30236461 )	Moya S?nchez E...Ruiz de Ar?valo Garc?a ?	2018
9	Pathological fracture of the humerus and subsequent diagnosis of polyostotic fibrous dysplasia. ( 30342755 )	Santos Seoane SM...Fonseca Aizpuru EM	2018
10	EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE. ( 30383490 )	Wang Y...Xing X	2018
11	Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome. ( 30442414 )	Romanet P...Barlier A	2018
12	Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome. ( 30150346 )	Pina Rivera Y...Sesay S	2018
13	Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome. ( 30454028 )	Aversa T...Wasniewska M	2018
14	Management of precocious puberty in girls with McCune-Albright syndrome using letrozole. ( 30475223 )	Wang X...Yu Q	2018
15	Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review. ( 29984378 )	Lecumberri B...P?rez de Nanclares G	2018
16	Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome. ( 29988390 )	Corica D...Wasniewska M	2018
17	Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. ( 30124968 )	Robinson C...Collins MT	2018
18	Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. ( 28188442 )	Wood L.D....Montgomery E.A.	2017
19	Long-term health outcomes of adults with McCune-Albright syndrome. ( 28699175 )	Wong S.C....Zacharin M.	2017
20	Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature. ( 28242980 )	Kumar N....Gambhir S.	2017
21	Acromegaly with hypophosphataemia: McCune-Albright syndrome. ( 28963390 )	Pal R....Bhansali A.	2017
22	Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017. ( 29292624 )	Neyman A....Eugster E.A.	2017
23	McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )	Mahdi A.J....Thakur I.	2017
24	Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. ( 28845837 )	Biazzo A....Confalonieri N.	2017
25	McCune-Albright Syndrome: Diagnosis and clinical course in eleven patients. ( 29198617 )	Hou J.W.	2017
26	Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain. ( 28676838 )	Fighera T.M....Spritzer P.M.	2017
27	Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome. ( 28638307 )		2017
28	Secondary aneurysmal bone cyst in McCune-Albright syndrome. ( 29354163 )		2017
29	Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome. ( 29201948 )		2017
30	Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )		2017
31	Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. ( 28528327 )		2017
32	Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube. ( 29104223 )		2017
33	Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership. ( 28243882 )		2017
34	18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia. ( 28806239 )	Hakozaki M...Konno S	2017
35	Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note. ( 28439311 )	Hefti F...Krieg AH	2017
36	Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome. ( 28007843 )	Yao Y...Zhu H	2017
37	Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study. ( 28352837 )	WA^jcik S....Raczkowska-Siostrzonek A.	2016
38	McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )	Raus I....Coroiu R.E.	2016
39	Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )	Majoor B.C....Hamdy N.A.	2016
40	Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. ( 26588455 )	Settecase F....Hetts S.W.	2016
41	Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. ( 27562402 )	Estrada A....Collins M.T.	2016
42	Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. ( 27492469 )	Robinson C....Boyce A.M.	2016
43	[McCune-Albright syndrome revealed by Blaschko-linear cafAc-au-lait spots on the back]. ( 26610360 )		2016
44	Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome. ( 27161212 )		2016
45	Two-Stage Surgical Treatment of Complex Femoral Deformities with Severe Coxa Vara in Polyostotic Fibrous Dysplasia. ( 30237924 )	Ippolito E...Fichera A	2016
46	Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )	Hennessy G...Mansberg R	2016
47	Extensive polyostotic fibrous dysplasia evaluated for malignant transformation with 99mTc-MDP bone scan and 18F-FDG PET/CT. ( 30459987 )	Makis W...Probst S	2016
48	Polyostotic fibrous dysplasia presenting with back pain radiating to the ribs. ( 26724398 )	Ozturker C...Mutlu H	2016
49	Polyostotic fibrous dysplasia: a rare cause of pathological fractures in young patients. ( 26744536 )	Sagmeister ML...Lewis TL	2016
50	McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases. ( 26850292 )	Agopiantz M...Leheup B	2016

Sources

Genes for Mccune-Albright Syndrome

Genes related to Mccune-Albright Syndrome (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GNAS	GNAS Complex Locus	Protein Coding	1720.5	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative somatic mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1944469 7739708 2549426 (more) 8766942 12970318 9626141 16507630 24855271 25719192 1594625 3720010 12727968 10571700 7751320 15183415 12756386 17982384 10646121
2	PRL	Prolactin	Protein Coding	29.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10517473 7911814 7962285
3	GH1	Growth Hormone 1	Protein Coding	26.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7962285 7911814
4	APC	APC, WNT Signaling Pathway Regulator	Protein Coding	25.34	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10646121
5	FGF23	Fibroblast Growth Factor 23	Protein Coding	23.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	IGF1	Insulin Like Growth Factor 1	Protein Coding	23.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	AMH	Anti-Mullerian Hormone	Protein Coding	22.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SST	Somatostatin	Protein Coding	22.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	21.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	IBSP	Integrin Binding Sialoprotein	Protein Coding	21.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	21.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Mccune-Albright Syndrome

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

⁷⁵

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

ClinVar genetic disease variations for Mccune-Albright Syndrome:

⁶ (show all 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GNAS	NM_000516.5(GNAS): c.601C> T (p.Arg201Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs11554273	GRCh37	Chromosome 20, 57484420: 57484420
2	GNAS	NM_000516.5(GNAS): c.601C> T (p.Arg201Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs11554273	GRCh38	Chromosome 20, 58909365: 58909365
3	GNAS	NM_000516.5(GNAS): c.602G> A (p.Arg201His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913495	GRCh37	Chromosome 20, 57484421: 57484421
4	GNAS	NM_000516.5(GNAS): c.602G> A (p.Arg201His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913495	GRCh38	Chromosome 20, 58909366: 58909366
5	GNAS	NM_000516.5(GNAS): c.680A> G (p.Gln227Arg)	single nucleotide variant	Pathogenic	rs121913494	GRCh37	Chromosome 20, 57484596: 57484596
6	GNAS	NM_000516.5(GNAS): c.680A> G (p.Gln227Arg)	single nucleotide variant	Pathogenic	rs121913494	GRCh38	Chromosome 20, 58909541: 58909541
7	GNAS	NM_000516.5(GNAS): c.601C> A (p.Arg201Ser)	single nucleotide variant	Pathogenic	rs11554273	GRCh37	Chromosome 20, 57484420: 57484420
8	GNAS	NM_000516.5(GNAS): c.601C> A (p.Arg201Ser)	single nucleotide variant	Pathogenic	rs11554273	GRCh38	Chromosome 20, 58909365: 58909365
9	GNAS	NM_000516.5(GNAS): c.601C> G (p.Arg201Gly)	single nucleotide variant	Pathogenic	rs11554273	GRCh37	Chromosome 20, 57484420: 57484420
10	GNAS	NM_000516.5(GNAS): c.601C> G (p.Arg201Gly)	single nucleotide variant	Pathogenic	rs11554273	GRCh38	Chromosome 20, 58909365: 58909365
11	GNAS	NM_000516.5(GNAS): c.602G> T (p.Arg201Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913495	GRCh37	Chromosome 20, 57484421: 57484421
12	GNAS	NM_000516.5(GNAS): c.602G> T (p.Arg201Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913495	GRCh38	Chromosome 20, 58909366: 58909366
13	GNAS	NM_000516.5(GNAS): c.679C> A (p.Gln227Lys)	single nucleotide variant	Pathogenic	rs797045203	GRCh38	Chromosome 20, 58909540: 58909540
14	GNAS	NM_000516.5(GNAS): c.679C> A (p.Gln227Lys)	single nucleotide variant	Pathogenic	rs797045203	GRCh37	Chromosome 20, 57484595: 57484595
15	GNAS	NM_000516.5(GNAS): c.680A> T (p.Gln227Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913494	GRCh38	Chromosome 20, 58909541: 58909541
16	GNAS	NM_000516.5(GNAS): c.680A> T (p.Gln227Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913494	GRCh37	Chromosome 20, 57484596: 57484596
17	GNAS	NM_000516.5(GNAS): c.681G> T (p.Gln227His)	single nucleotide variant	Pathogenic	rs137854533	GRCh38	Chromosome 20, 58909542: 58909542
18	GNAS	NM_000516.5(GNAS): c.681G> T (p.Gln227His)	single nucleotide variant	Pathogenic	rs137854533	GRCh37	Chromosome 20, 57484597: 57484597
19	GNAS	NM_080425.3(GNAS): c.1200C> A (p.Ala400=)	single nucleotide variant	Uncertain significance	rs908810796	GRCh37	Chromosome 20, 57429520: 57429520
20	GNAS	NM_080425.3(GNAS): c.1200C> A (p.Ala400=)	single nucleotide variant	Uncertain significance	rs908810796	GRCh38	Chromosome 20, 58854465: 58854465
21	GNAS	NM_080425.3(GNAS): c.1455C> A (p.Ala485=)	single nucleotide variant	Uncertain significance	rs55890501	GRCh37	Chromosome 20, 57429775: 57429775
22	GNAS	NM_080425.3(GNAS): c.1455C> A (p.Ala485=)	single nucleotide variant	Uncertain significance	rs55890501	GRCh38	Chromosome 20, 58854720: 58854720

Copy number variations for Mccune-Albright Syndrome from CNVD:

⁷

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

Sources

Expression for Mccune-Albright Syndrome

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

Sources

Pathways for Mccune-Albright Syndrome

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

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.92	APC FGF23 GH1 GNAS IGF1
2	Pathways in cancer ³⁷	12.48	APC FGF23 GNAS IGF1
3	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	12.03	APC FGF23 GH1 IGF1
4	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.01	APC FGF23 GH1 GNAS IBSP IGF1
5	Parathyroid hormone synthesis, secretion and action ³⁷	11.61	BGLAP FGF23 GNAS
6	G-protein signaling_RhoA regulation pathway ²²	11.36	FGF23 GH1 GNAS IGF1
7	Ovarian steroidogenesis ³⁷	11.19	CYP19A1 GNAS IGF1
8	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	11.12	GH1 PRL
9	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.09	BGLAP CYP19A1 IGF1
10	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.92	BGLAP GNAS IBSP
11	G-protein signaling_Rap2B regulation pathway ²²	10.7	FGF23 GH1 GNAS IGF1
12	Osteoblast Signaling ¹	10.28	BGLAP FGF23 IBSP

Sources

GO Terms for Mccune-Albright Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.56	AMH BGLAP FGF23 GH1 IBSP IGF1
2	extracellular region	GO:0005576	9.28	AMH BGLAP FGF23 GH1 GNAS IBSP
3	endosome lumen	GO:0031904	9.16	GH1 PRL

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular protein metabolic process	GO:0044267	9.69	FGF23 IGF1 PRL
2	skeletal system development	GO:0001501	9.61	BGLAP GNAS IGF1
3	response to organic cyclic compound	GO:0014070	9.58	AMH BGLAP PRL
4	bone mineralization	GO:0030282	9.55	BGLAP IBSP
5	biomineral tissue development	GO:0031214	9.54	BGLAP IBSP
6	mammary gland development	GO:0030879	9.52	CYP19A1 PRL
7	regulation of multicellular organism growth	GO:0040014	9.49	IGF1 PRL
8	positive regulation of JAK-STAT cascade	GO:0046427	9.48	GH1 PRL
9	regulation of bone mineralization	GO:0030500	9.46	BGLAP FGF23
10	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.37	GH1 PRL
11	response to drug	GO:0042493	9.35	AMH BGLAP GNAS PRL SST
12	response to nutrient levels	GO:0031667	9.33	BGLAP GH1 PRL
13	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.32	GH1 IGF1
14	cellular response to vitamin D	GO:0071305	9.26	BGLAP FGF23
15	regulation of signaling receptor activity	GO:0010469	9.1	AMH FGF23 GH1 IGF1 PRL SST

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

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:0008083	9.46	AMH FGF23 GH1 IGF1
2	insulin-like growth factor receptor binding	GO:0005159	9.26	GNAS IGF1
3	hormone activity	GO:0005179	9.02	AMH GH1 IGF1 PRL SST
4	prolactin receptor binding	GO:0005148	8.96	GH1 PRL

Sources

Sources for Mccune-Albright Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mccune-Albright Syndrome (MAS)

Aliases & Classifications for Mccune-Albright Syndrome

MalaCards integrated aliases for Mccune-Albright Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mccune-Albright Syndrome

Related Diseases for Mccune-Albright Syndrome

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

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

Symptoms & Phenotypes for Mccune-Albright Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mccune-Albright Syndrome:

MGI Mouse Phenotypes related to Mccune-Albright Syndrome:

Drugs & Therapeutics for Mccune-Albright Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: fibrous dysplasia of bone

Genetic Tests for Mccune-Albright Syndrome

Genetic tests related to Mccune-Albright Syndrome:

Anatomical Context for Mccune-Albright Syndrome

MalaCards organs/tissues related to Mccune-Albright Syndrome:

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

Genes for Mccune-Albright Syndrome

Genes related to Mccune-Albright Syndrome (1 elite genes):

Variations for Mccune-Albright Syndrome

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

ClinVar genetic disease variations for Mccune-Albright Syndrome:

Copy number variations for Mccune-Albright Syndrome from CNVD:

Expression for Mccune-Albright Syndrome

Pathways for Mccune-Albright Syndrome

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

GO Terms for Mccune-Albright Syndrome

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

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

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

Sources for Mccune-Albright Syndrome