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

MCID: MCC012 MIFTS: 65	Mccune-Albright Syndrome Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases
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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

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 205508003 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 Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related phenotypes are long penis and macroorchidism

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.

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

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.

Wikipedia : ⁷⁶ McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin, and endocrine systems.... 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 158)

#	Related Disease	Score	Top Affiliating Genes
1	fibrous dysplasia/mccune-albright syndrome	34.7	GH1 PRL
2	gigantism	33.4	GH1 PRL
3	osteitis fibrosa	32.7	BGLAP GNAS
4	precocious puberty	31.8	CYP19A1 GH1 GNAS
5	testotoxicosis	31.1	CYP19A1 GNAS
6	hypothalamic disease	31.0	GH1 PRL
7	galactorrhea	30.9	IGF1 PRL
8	growth hormone secreting pituitary adenoma	30.2	GNAS PRL SST
9	hypothyroidism	30.1	GH1 GNAS IGF1 PRL
10	acromegaly	30.1	GH1 GNAS IGF1 PRL SST
11	hyperprolactinemia	29.9	GH1 IGF1 PRL SST
12	pseudohypoparathyroidism	29.7	APC BGLAP GNAS
13	primary hyperparathyroidism	29.6	BGLAP FGF23 PRL
14	ovarian disease	29.6	AMH CYP19A1 IGF1 PRL
15	adrenal gland hyperfunction	29.3	BGLAP GH1 PRL SST
16	adenoma	29.1	APC GH1 GNAS IGF1 PRL SST
17	hyperthyroidism	29.1	BGLAP GH1 GNAS PRL SST
18	pituitary tumors	29.1	GH1 GNAS IGF1 PRL SST
19	bone disease	27.9	BGLAP CYP19A1 FGF23 IBSP IGF1
20	fibrous dysplasia	27.9	APC BGLAP FGF23 GH1 GNAS IBSP
21	acth-independent macronodular adrenal hyperplasia	11.6
22	carney complex, type 1	11.2
23	legius syndrome	11.2
24	autosomal dominant café au lait spots	11.2
25	properdin deficiency, x-linked	11.2
26	fundus dystrophy, pseudoinflammatory, recessive form	11.0
27	pseudoinflammatory fundus dystrophy	11.0
28	adenohypophysitis	10.7	GH1 PRL
29	isolated growth hormone deficiency, type ib	10.6	GH1 IGF1
30	androgenic alopecia	10.6	CYP19A1 PRL
31	sheehan syndrome	10.6	IGF1 PRL
32	tetrahydrobiopterin deficiency	10.5	GH1 PRL
33	phosphorus metabolism disease	10.5	FGF23 GNAS
34	central nervous system organ benign neoplasm	10.5	IGF1 PRL
35	fourth cranial nerve palsy	10.5	APC PRL
36	pituitary adenoma	10.5
37	non-functioning pituitary adenoma	10.5	GH1 SST
38	albright's hereditary osteodystrophy	10.5	APC GNAS
39	thyroiditis	10.5
40	chromophobe adenoma	10.5	GH1 PRL
41	villous adenoma	10.4	GNAS SST
42	acidophil adenoma	10.4	IGF1 SST
43	pituitary stalk interruption syndrome	10.4	GH1 PRL
44	chiasmal syndrome	10.4	PRL SST
45	laron syndrome	10.4	GH1 IGF1
46	pituitary carcinoma	10.4	PRL SST
47	prolactin producing pituitary tumor	10.4	PRL SST
48	nelson syndrome	10.4	PRL SST
49	isolated growth hormone deficiency, type ii	10.3	GH1 IGF1
50	empty sella syndrome	10.3	GH1 IGF1 PRL

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

Sources

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 48)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	long penis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000040
2	macroorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000053
3	tall stature ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000098
4	polycystic ovaries ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000147
5	macrocephaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000256
6	mandibular prognathia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000303
7	hearing abnormality ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000364
8	abnormality of vision ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000504
9	optic atrophy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000648
10	carious teeth ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000670
11	abnormality of dental enamel ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000682
12	precocious puberty ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000826
13	hyperthyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000836
14	hyperparathyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000843
15	goiter ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000853
16	hypophosphatemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002148
17	skeletal dysplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002652
18	bone pain ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002653
19	recurrent fractures ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002757
20	kyphosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002808
21	elevated hepatic transaminases ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002910
22	prolonged bleeding time ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003010
23	reduced bone mineral density ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004349
24	generalized hyperpigmentation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007440
25	multiple cafe-au-lait spots ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007565
26	testicular neoplasm ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010788
27	open bite ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010807
28	neoplasm of the breast ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100013
29	neoplasm of the thyroid gland ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100031
30	sarcoma ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100242
31	abnormality of the dentition ⁵⁹		Occasional (29-5%)
32	abnormality of the palate ⁵⁹		Occasional (29-5%)
33	abnormality of the face ⁵⁹		Occasional (29-5%)
34	abnormality of the eye ⁵⁹		Occasional (29-5%)
35	hypercortisolism ⁵⁹		Occasional (29-5%)
36	facial asymmetry ³²			HP:0000324
37	hearing impairment ³²			HP:0000365
38	blindness ³²			HP:0000618
39	growth hormone excess ³²			HP:0000845
40	prolactin excess ³²			HP:0000870
41	pathologic fracture ³²			HP:0002756
42	pituitary adenoma ³²			HP:0002893
43	increased circulating cortisol level ³²	occasional (7.5%)		HP:0003118
44	craniofacial hyperostosis ³²			HP:0004493
45	large cafe-au-lait macules with irregular margins ³²			HP:0005605
46	polyostotic fibrous dysplasia ³²			HP:0010735
47	intestinal polyposis ³²			HP:0200008
48	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	IGF1 CYP19A1 PRL FGF23 AMH GNAS
2	immune system	MP:0005387	10.01	PRL FGF23 SST GNAS APC IBSP
3	endocrine/exocrine gland	MP:0005379	10	PRL FGF23 AMH GNAS APC IGF1
4	integument	MP:0010771	9.85	PRL FGF23 GNAS APC IGF1 CYP19A1
5	limbs/digits/tail	MP:0005371	9.72	FGF23 GNAS APC IBSP IGF1
6	neoplasm	MP:0002006	9.65	PRL AMH GNAS APC IGF1
7	renal/urinary system	MP:0005367	9.55	FGF23 GNAS APC IGF1 CYP19A1
8	reproductive system	MP:0005389	9.43	PRL FGF23 AMH APC IGF1 CYP19A1
9	skeleton	MP:0005390	9.17	FGF23 SST GNAS APC IBSP IGF1

Sources

Drugs & Therapeutics for Mccune-Albright Syndrome

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

(show all 24)

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

Bone Density Conservation Agents

Phase 2, Phase 3

calcium channel blockers

Phase 2, Phase 3

Calcium, Dietary

Phase 2, Phase 3

Diphosphonates

Phase 2, Phase 3

Risedronate Sodium

Phase 2, Phase 3

115436-72-1

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

121268-17-5, 66376-36-1

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

104741 17756771

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

Antineoplastic Agents, Hormonal

Phase 2

Aromatase Inhibitors

Phase 2,Phase 1

Estrogen Antagonists

Phase 2,Phase 1

Estrogens

Phase 2,Phase 1

Steroid Synthesis Inhibitors

Phase 2,Phase 1

Phosphodiesterase 4 Inhibitors

Phase 1, Phase 2

Estrogen Receptor Antagonists

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

75614-87-8, 51-45-6

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

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	Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome	Recruiting	NCT00001727
15	Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry	Recruiting	NCT03231644
16	Interest of Serum Periostin Dosage in Patients With Bone Fibrous Dysplasia	Recruiting	NCT02868645	Not Applicable
17	Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome	Not yet 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, Bone Marrow

Sources

Publications for Mccune-Albright Syndrome

Articles related to Mccune-Albright Syndrome:

(show top 50) (show all 382)

#	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 )	Robinson C....Collins M.T.	2018
6	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
7	Long-term health outcomes of adults with McCune-Albright syndrome. ( 28699175 )	Wong S.C....Zacharin M.	2017
8	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
9	Acromegaly with hypophosphataemia: McCune-Albright syndrome. ( 28963390 )	Pal R....Bhansali A.	2017
10	Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017. ( 29292624 )	Neyman A....Eugster E.A.	2017
11	McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. ( 28612379 )	Mahdi A.J....Thakur I.	2017
12	Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. ( 28845837 )	Biazzo A....Confalonieri N.	2017
13	McCune-Albright Syndrome: Diagnosis and clinical course in eleven patients. ( 29198617 )	Hou J.W.	2017
14	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
15	Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome. ( 28638307 )	Verbeeten K....McDonald J.	2017
16	Secondary aneurysmal bone cyst in McCune-Albright syndrome. ( 29354163 )	Tournis S....Mavrogenis A.F.	2017
17	Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome. ( 29201948 )	Tosur M....Jeha G.S.	2017
18	Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome. ( 28660402 )	Corsi A....Boyde A.	2017
19	Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. ( 28528327 )	Itonaga T....Ihara K.	2017
20	Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube. ( 29104223 )	Lo F.S....Chiou C.C.	2017
21	Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership. ( 28243882 )	Boyce A.M....Javaid M.K.	2017
22	Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study. ( 28352837 )	WA^jcik S....Raczkowska-Siostrzonek A.	2016
23	McCune Albright syndrome - association of fibrous dysplasia, cafAc-au-lait skin spots and hyperthyroidism - case report. ( 27857528 )	Raus I....Coroiu R.E.	2016
24	Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. ( 27649526 )	Majoor B.C....Hamdy N.A.	2016
25	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
26	Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. ( 27562402 )	Estrada A....Collins M.T.	2016
27	Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. ( 27492469 )	Robinson C....Boyce A.M.	2016
28	[McCune-Albright syndrome revealed by Blaschko-linear cafAc-au-lait spots on the back]. ( 26610360 )	Jung A.J....Lipsker D.	2016
29	Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome. ( 27161212 )	Urgun K....KA+lA+As T.	2016
30	Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT. ( 27740949 )	Hennessy G....Mansberg R.	2016
31	Expert's comment concerning Grand Rounds case entitled &quot;Scoliosis correction surgery for patients with McCune-Albright syndrome using pedicle screws: a report of two cases with different characteristics and a review of the literature&quot; (K. Yamane, M. Tanaka, Y. Sugimoto, H. Misawa and T. Ozaki). ( 25777535 )	Korovessis P.	2015
32	Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome. ( 26565547 )	Tessaris D....Defabianis P.	2015
33	Low serum free thyroxine level in a girl with McCune-Albright syndrome. ( 25564585 )	Roosimaa M....Tillmann V.	2015
34	Scoliosis correction surgery for patients with McCune-Albright syndrome using pedicle screws: a report of two cases with different characteristics and a review of the literature. ( 25697334 )	Yamane K....Ozaki T.	2015
35	A case of craniofacial fibrous dysplasia associated with McCune-Albright syndrome lost to follow-up. ( 25721837 )	Williams R.G.	2015
36	Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome. ( 25402389 )	Messina M.F....Lombardo F.	2014
37	Hepatobiliary and Pancreatic Neoplasms in Patients With McCune-Albright Syndrome. ( 24170100 )	Gaujoux S....Chanson P.	2014
38	McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient. ( 25062453 )	Vasilev V....Beckers A.	2014
39	Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis. ( 24898823 )	Parvanescu A....Gaujoux S.	2014
40	Anesthetic management of an acromegalic patient with McCune Albright syndrome for endoscopic transsphenoidal adenoma removal. ( 24598473 )	Koc D....Seker A.	2014
41	Toxic Thyroid Adenoma in McCune-Albright Syndrome. ( 24701557 )	Shetty S....Paul T.V.	2014
42	Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome. ( 24850831 )	Turcic K....Pals-Rylaarsdam R.	2014
43	Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome. ( 25120617 )	Xu J....Gui L.	2014
44	A Suspected Case and Literature Review of McCune-Albright Syndrome. ( 25324661 )	Jung K.E....Kim T.Y.	2014
45	Oral pigmentation in McCune-Albright syndrome. ( 24671640 )	Pichard D.C....Cowen E.W.	2014
46	Sudden Onset Vision Loss in an 8-year-old Female with McCune-Albright Syndrome. ( 23013381 )	Kim D....Benjamin L.T.	2014
47	Endoscopic Decompression for Optic Neuropathy in McCune-Albright Syndrome. ( 25368777 )	Noh J.H....Shin H.J.	2014
48	Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines. ( 25043984 )	Bousson V....Orcel P.	2014
49	Images in clinical medicine: McCune-Albright syndrome. ( 24476078 )	Peleg R....Treister-Goltzman Y.	2014
50	Acromegaly and McCune-Albright syndrome. ( 24517150 )	Salenave S....Chanson P.	2014

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	1745.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative somatic mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ 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	29.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10517473 7911814 7962285
3	GH1	Growth Hormone 1	Protein Coding	26.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7962285 7911814
4	APC	APC, WNT Signaling Pathway Regulator	Protein Coding	25.42	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10646121
5	FGF23	Fibroblast Growth Factor 23	Protein Coding	23.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	IGF1	Insulin Like Growth Factor 1	Protein Coding	23.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	SST	Somatostatin	Protein Coding	22.49	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	AMH	Anti-Mullerian Hormone	Protein Coding	22.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	IBSP	Integrin Binding Sialoprotein	Protein Coding	21.84	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	21.65	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:

#	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	12.88	APC FGF23 GH1 GNAS IGF1
2	Pathways in cancer ³⁷	12.43	APC FGF23 GNAS IGF1
3	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	11.99	APC FGF23 GH1 GNAS IBSP IGF1
4	Parathyroid hormone synthesis, secretion and action ³⁷	11.57	BGLAP FGF23 GNAS
5	Ovarian steroidogenesis ³⁷	11.19	CYP19A1 GNAS IGF1
6	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.09	BGLAP CYP19A1 IGF1
7	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	11.07	GH1 PRL
8	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.92	BGLAP GNAS IBSP
9	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 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular protein metabolic process	GO:0044267	9.7	FGF23 IGF1 PRL
2	skeletal system development	GO:0001501	9.58	BGLAP GNAS IGF1
3	bone mineralization	GO:0030282	9.54	BGLAP IBSP
4	biomineral tissue development	GO:0031214	9.51	BGLAP IBSP
5	mammary gland development	GO:0030879	9.49	CYP19A1 PRL
6	regulation of multicellular organism growth	GO:0040014	9.48	IGF1 PRL
7	positive regulation of JAK-STAT cascade	GO:0046427	9.46	GH1 PRL
8	response to drug	GO:0042493	9.46	AMH BGLAP GNAS SST
9	regulation of bone mineralization	GO:0030500	9.43	BGLAP FGF23
10	regulation of signaling receptor activity	GO:0010469	9.43	AMH FGF23 GH1 IGF1 PRL SST
11	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.37	GH1 PRL
12	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.32	GH1 IGF1
13	cellular response to vitamin D	GO:0071305	9.26	BGLAP FGF23
14	response to nutrient levels	GO:0031667	8.92	BGLAP GH1 IGF1 PRL

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