MAS
MCID: MCC001
MIFTS: 82

Mccune Albright Syndrome (MAS) malady

Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Summaries for Mccune Albright Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Mccune-albright syndrome (mas) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. it is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). mas is caused by a change (mutation) in the gnas gene that occurs by chance very early in development. as a result, some of the body's cells have a normal version of the gnas gene, while other cells have the mutated version. this phenomenon is called mosaicism. the severity of mas and its features depend on the number and location of cells that have the mutated gnas gene. because mas occurs by chance, it is not inherited or passed down from one generation to the next. last updated: 12/26/2013

MalaCards: Mccune Albright Syndrome, also known as mccune-albright syndrome, is related to fibrous dysplasia and acromegaly, and has symptoms including bone pain, macropenis/megapenis/large penis and hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding. An important gene associated with Mccune Albright Syndrome is GNAS (GNAS complex locus), and among its related pathways are Osteoblast Signaling and Regulation of Insulin Secretion by Free Fatty Acids. The compounds forskolin and procollagen have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Disease Ontology:8 An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. it is caused by mutations in the gnas1 gene.

Genetics Home Reference:21 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

Description from OMIM:46 174800

Aliases & Classifications for Mccune Albright Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 21Genetics Home Reference, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
mccune-albright syndrome:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal
fibrous dysplasia of bone:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

mccune albright syndrome 8 42 10
mccune-albright syndrome 9 20 22 21 46 48 60
polyostotic fibrous dysplasia 8 21 48 60
osteitis fibrosa disseminata 8 21 60
fibrous dysplasia of bone 8 48
osteofibrous dysplasia 48 60
albright's disease 42 21
albright syndrome 42 21
pofd 42 21
mas 42 21
pfd 42 21
fibrous dysplasia with pigmentary skin changes and precocious puberty 21
gonadotropin-independent female-limited sexual precocity 48
albright's syndrome with precocious puberty 21
albright-mccune-sternberg syndrome 21
fibrous dysplasia, polyostotic 21
properdin deficiency, x-linked 60
fibrous dysplasia polyostotic 44
albright-sternberg syndrome 21
albright's disease of bone 21
jaffe-lichtenstein disease 48
albright's syndrome 21


External Ids:

Disease Ontology8 DOID:1858
OMIM46 174800
MeSH34 D005357
MESH via Orphanet35 D005359, D005357
ICD10 via Orphanet26 Q78.1
SNOMED-CT via Orphanet57 36517007, 10623005
UMLS via Orphanet61 C0242292, C0016065
ICD1025 M85.0, Q78.1

Related Diseases for Mccune Albright Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Mccune Albright Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 240)
idRelated DiseaseScoreTop Affiliating Genes
1fibrous dysplasia31.6GNAS, GNA11, IBSP, GNA15, GH1, FGF23
2acromegaly31.3GH1, PRL
3hyperthyroidism31.1ALPP, LMOD1, FGF23, TRH, PRL, GH1
4pituitary adenoma31.0GNAS, GNRH1, MEN1, GH1, PRL, TRH
5adenoma31.0GNAS, GNRH1, DIO2, MEN1, GH1, PRL
6thyroiditis31.0TRH
7osteitis fibrosa30.9GNAS, ALPP
8carney complex30.8MEN1, GNAS
9ovarian cyst30.8GNAS, GNRH1, CYP19A1
10osteosarcoma30.8ALPP, SPARC, IBSP
11rickets30.7FGF23, ALPP
12osteofibrous dysplasia30.7SPARC, GNAS
13hypophosphatemia30.7FGF23, SLC34A1, ALPP
14hyperparathyroidism30.7ALPP, FGF23, MEN1
15hyperprolactinemia30.7TRH, PRL, GH1, GNRH1, GNAS
16hypogonadotropism30.5PRL, GNRH1
17pseudohypoparathyroidism30.5GNA15, GNAS, GNA11
18primary hyperparathyroidism30.5IBSP, MEN1, FGF23, ALPP
19hypogonadism30.5GNRH1, GH1, PRL, TRH, CYP19A1
20cushing's syndrome30.5GNAS, GNRH1, MEN1, GH1, PRL, TRH
21thyrotoxicosis30.3TRH
22pancreatitis30.3ALPP
23empty sella syndrome30.3GH1, PRL
24paget's disease of bone30.3ALPP
25hypercalcemia30.3ALPP, FGF23, MEN1
26osteogenesis imperfecta30.3ALPP, SPARC, IBSP
27gigantism30.3GNAS, GH1, PRL
28bone carcinoma30.3IBSP, SPARC, ALPP
29goiter30.3GNAS, DIO2, TRH, LMOD1
30infertility30.3FGF23, CYP19A1, PRL, GNRH1, AMH
31meningioma30.3SPARC, MEN1
32osteoporosis30.3ALPP, SPARC, FGF23, CYP19A1, GH1, IBSP
33prolactinoma30.3TRH, PRL, GH1, MEN1, GNRH1, GNAS
34breast cancer30.3AMH, GNRH1, MEN1, GH1, PRL, CYP19A1
35osteomalacia30.2ALPP, FGF23, GNAS
36pituitary apoplexy29.9GNRH1, PRL, TRH
37amenorrhea29.9AMH, GNRH1, PRL, TRH
38adenocarcinoma29.8IBSP, DIO2, MEN1, SPARC
39polycystic ovary syndrome29.8GNRH1, GH1, PRL, CYP19A1
40obesity29.7GNAS, DIO2, GH1, TRH, CFD
41image syndrome10.6
42long bone adamantinoma10.5
43cervicitis10.5
44adult syndrome10.5
45forbes albright syndrome10.4
46hepatitis10.4
47mccune–albright syndrome10.4
48growth hormone secreting pituitary adenoma10.4
49chondrosarcoma10.4
50neuropathy10.4

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



Diseases related to mccune albright syndrome

Clinical Features for Mccune Albright Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

174800

Clinical synopsis from OMIM:

174800

Symptoms:

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

Drugs & Therapeutics for Mccune Albright Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mccune Albright Syndrome

Drug clinical trials:

Search ClinicalTrials for Mccune Albright Syndrome

Search NIH Clinical Center for Mccune Albright Syndrome

Search CenterWatch for Mccune Albright Syndrome

Genetic Tests for Mccune Albright Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Mccune Albright Syndrome:

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome20 22 GNAS

Anatomical Context for Mccune Albright Syndrome

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32MalaCards
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MalaCards organs/tissues related to Mccune Albright Syndrome:

32
Bone, Skin, Pituitary, Thyroid, Ovary, Breast, Eye, Testes, Myeloid

Animal Models for Mccune Albright Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mccune Albright Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.0AMH, MEN1, DIO1, GNA11
2MP:00053679.4GNAS, GNRH1, DIO1, DIO2, FGF23, SLC34A1
3MP:00053709.3MEN1, GNAS, GNA11, PRL, CYP19A1, GH1
4MP:00053909.2GNRH1, GNAS, GNA11, IBSP, CYP19A1, SLC34A1
5MP:00053899.1FGF23, SLC34A1, ALPP, CYP19A1, PRL, GH1
6MP:00107718.9PRL, CYP19A1, FGF23, ADCY1, GNAS, GNRH1
7MP:00036318.8GNA11, GNAS, GNRH1, MEN1, GH1, PRL
8MP:00053878.7MEN1, GNRH1, GNAS, GNA11, FGF23, PRL
9MP:00053788.4GNA11, FGF23, ALPP, SLC34A1, TRH, IBSP
10MP:00053768.0AMH, ADCY1, SLC34A1, SPARC, FGF23, CYP19A1

Publications for Mccune Albright Syndrome

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50PubMed
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Articles related to Mccune Albright Syndrome:

(show top 50)    (show all 329)
idTitleAuthorsYear
1
Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome. (22564667)
2012
2
Partial benefit of anastrozole in the long-term treatment of precocious puberty in McCune-Albright syndrome. (22774233)
2012
3
Fetal ovarian cysts: an early manifestation of McCune-Albright syndrome? (22692721)
2012
4
Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome. (22068112)
2012
5
Sarcomatous transformation in the McCune-Albright syndrome. (21892759)
2012
6
Acrogigantism and facial asymmetry: McCune-Albright syndrome. (22145488)
2011
7
Eight-year follow-up of a girl with McCune-Albright syndrome. (21448334)
2011
8
Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome. (20543510)
2010
9
Difficulties in diagnosis and treatment of acromegaly in a patient with a McCune-Albright syndrome. A case report and a review of literature. (21173751)
2010
10
Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model. (20362972)
2010
11
McCune-Albright syndrome (MAS): early and extensive bone fibrous dysplasia involvement and "mistaken identity" oophorectomy. (21073128)
2010
12
McCune Albright syndrome: epidermal nevus syndrome. (21098538)
2010
13
McCune-Albright syndrome and acromegaly: hormonal control with use of cabergoline and long-acting somatostatin--case report. (19347192)
2009
14
Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period. (19844118)
2009
15
The spectrum of McCune Albright syndrome. (17982388)
2007
16
McCune-Albright syndrome associated with acromegaly and bipolar affective disorder. (18054713)
2007
17
Surgical management of fibrous dysplasia in McCune-Albright syndrome. (17982394)
2007
18
Genetic and molecular aspects of McCune-Albright syndrome. (17982384)
2007
19
An update on the treatment of precocious puberty in McCune-Albright syndrome and testotoxicosis. (17663289)
2007
20
McCune-Albright Syndrome-pseudohypoparathyroidism. Proceedings of an international meeting on Gs alpha related diseases. December 2004. Turin, Italy. (17051680)
2006
21
A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue. (16543670)
2006
22
Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples. (17132753)
2006
23
A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment. (16950755)
2006
24
Tamoxifen improved final height prediction in a girl with McCune-Albright syndrome: patient report and literature review. (16509532)
2006
25
Identification of a second-site suppressor mutation of the GTPase defect associated with McCune-Albright syndrome: a model using the yeast heterotrimeric G protein, GPA1. (17132542)
2006
26
Paediatric management of endocrine complications in McCune-Albright syndrome. (15679067)
2005
27
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. (15126527)
2004
28
Infant cholestasis in McCune-Albright syndrome. (14989456)
2004
29
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. (12729407)
2003
30
Osteosarcoma of the Skull Base after Radiation Therapy in a Patient with McCune-Albright Syndrome: Case Report. (15912163)
2003
31
McCune-Albright syndrome: molecular genetics. (12199345)
2002
32
Anesthetic management of a patient with McCune-Albright syndrome accompanied by polyostotic fibrous osteodysplasia. (14566534)
2001
33
McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses. (10567991)
1999
34
A case of pituitary adenoma associated with McCune-Albright syndrome. (11081212)
1999
35
McCune Albright syndrome and hypophosphatemic rickets. (10798120)
1999
36
Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations. (9413810)
1997
37
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. (8699958)
1996
38
A rare case of McCune-Albright syndrome associated with glaucoma retinal degeneration and arteriovenous malformations. (9091380)
1996
39
Growth hormone-prolactin-thyrotropin-secreting pituitary adenoma in atypical McCune-Albright syndrome with functionally normal Gs alpha protein. (7962285)
1994
40
Octreotide therapy of growth hormone excess in the McCune-Albright syndrome. (1624678)
1992
41
Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results. (1400888)
1992
42
The development of thyroid storm in a child with McCune-Albright syndrome after orthopedic surgery. (1514560)
1992
43
Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome. (1955519)
1991
44
Hypersecretion of growth hormone and prolactin in McCune-Albright syndrome. (2498385)
1989
45
The McCune-Albright syndrome. (3545811)
1987
46
Treatment of acromegaly with a somatostatin analog in a patient with McCune-Albright syndrome. (2889819)
1987
47
Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome. (6434946)
1984
48
McCune-Albright syndrome with sexual precocity in a boy. (4696146)
1973
49
McCune-Albright syndrome with endocrinological investigations. Report of a case. (5410568)
1970
50
McCune-Albright syndrome. Report of a male patient. (5881939)
1965

Genetic Variations for Mccune Albright Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mccune Albright Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GNASp.Arg201HisVAR_003441
2GNASp.Arg201CysVAR_003442rs11554273
3GNASp.Arg201GlyVAR_017844

Expression for genes affiliated with Mccune Albright Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mccune Albright Syndrome

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

Pathways for genes affiliated with Mccune Albright Syndrome

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 49PharmGKB, 51QIAGEN
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Pathways related to Mccune Albright Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2FGF23, IBSP
2
Hide members
10.0GNA15, GNA11
3
Development A2B receptor- action via G-protein alpha s
Hide members
9.9GNA11, GNAS, ADCY1
49.9GNAS, CYP19A1, ADCY1
59.9GNA15, GNAS, GNA11
69.8GNA11, GNA15, ADCY1
7
Development A3 receptor signaling
Hide members
9.8GNA11, GNA15, ADCY1
8
Hide members
9.8ADCY1, GNA15, GNA11
9
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.8IBSP, GNA11, GNAS, ADCY1
10
Development Endothelin-1/EDNRA signaling
Hide members
9.7GNA11, GNAS, GNRH1, ADCY1
11
Hide members
9.7ADCY1, GNA15, GNAS, GNA11
129.7ADCY1, GNA15, GNAS, GNA11
13
Development Dopamine D2 receptor transactivation of EGFR
Hide members
9.7GNA11, GNAS, GNA15, ADCY1
14
Hide members
9.7GNA11, GNAS, GNA15, ADCY1
159.7ADCY1, GNA15, GNAS, GNA11
16
Signal transduction cAMP signaling
Hide members
9.7GNA11, GNAS, GNA15, ADCY1
17
Hide members
9.6TRH, GNA15, GNRH1, GNA11
18
Hide members
9.5GNA11, GNRH1, GNA15, GH1, FGF23
19
Hide members
9.4GNAS, GNRH1, GH1, PRL, TRH, ADCY1
20
Hide members
9.4GNA11, GNRH1, GNA15, GH1, PRL, FGF23
21
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
22
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
23
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
24
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
25
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
26
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
27
Hide members
9.3GNA11, GNRH1, GNA15, GH1, FGF23, ADCY1
28
Hide members
8.4ADCY1, IBSP, GNA11, GNAS, GNRH1, GNA15

Compounds for genes affiliated with Mccune Albright Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 2BitterDB, 24HMDB, 59Tocris Bioscience
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Compounds related to Mccune Albright Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.6IBSP
2procollagen4410.4ALPP
31,25 dihydroxy vitamin d34410.4IBSP, FGF23, SLC34A1
4estrogen4410.3LMOD1, TRH, DIO2
5bromocriptine28 44 1112.2GNRH1, PRL, TRH
6estradiol benzoate4410.2GNRH1, PRL, CYP19A1
7ghrp4410.2GH1, TRH, PRL
8leuprolide acetate4410.2PRL, GNRH1, GH1, CYP19A1
9clomiphene citrate4410.2GNRH1, CYP19A1, GH1, PRL
10alizarin4410.2SPARC, IBSP, ALPP
11pyridostigmine44 1111.1PRL, TRH, GH1
12metoclopramide44 1111.1GH1, PRL, GNRH1, TRH
13sulpiride44 28 1112.1PRL, TRH, GH1
14zoledronic acid4410.1CYP19A1, IBSP, GNRH1, ALPP
15dehydroepiandrosterone sulfate4410.1CYP19A1, PRL, GH1, GNRH1
16propylthiouracil44 2 1112.1LMOD1, ALPP, DIO2
17pyridinoline4410.1GH1, SPARC, IBSP, ALPP
18naloxone44 49 28 1113.1TRH, GNRH1, PRL, GH1
19buserelin44 28 1112.1PRL, GNRH1, CYP19A1
20iodine44 2411.0DIO2, GNAS, TRH, LMOD1, DIO1
21melatonin44 59 28 11 2414.0CYP19A1, PRL, GH1, IBSP, TRH
22naltrexone44 49 28 1113.0GH1, PRL, GNRH1
23hydroxyapatite449.9FGF23, SPARC, ALPP, IBSP
24toremifene44 1110.9CYP19A1, PRL, GNRH1
25octreotide44 59 28 1112.9GNAS, GNRH1, GH1, PRL, TRH, FGF23
26androstenedione44 2410.9GH1, CYP19A1, PRL, GNRH1
27hydrocortisone44 2 59 1112.9TRH, PRL, ALPP, GH1, CYP19A1
28triiodothyronine449.8DIO1, LMOD1, TRH, PRL, GH1, DIO2
29calcitriol44 59 11 2412.8SPARC, SLC34A1, GH1, FGF23, ALPP
30gnrh449.8GH1, GNRH1, TRH, GNAS, CYP19A1, PRL
31acth449.8GNAS, TRH, GH1, PRL, ADCY1, GNRH1
32tamoxifen44 49 28 1112.8PRL, ALPP, GNRH1, AMH, GH1, CYP19A1
33progestin449.8ALPP, CYP19A1, PRL, GNRH1
34dopamine44 28 11 2412.8DIO2, GNAS, ADCY1, LMOD1, TRH, GNRH1
35creatinine449.7ADCY1, GNRH1, FGF23, CFD, ALPP, IBSP
36ibmx44 28 5911.7GH1, TRH, CFD, ALPP, ADCY1, IBSP
37cysteine449.7SPARC, LMOD1, DIO2, GNAS, DIO1, IBSP
38norepinephrine44 11 2411.7GNRH1, PRL, GNAS, TRH, ALPP, GH1
39estradiol44 11 2411.7GNRH1, GH1, PRL, TRH, AMH, CYP19A1
40ribonucleic acid449.6PRL, GNRH1, GNAS, DIO2, GH1
41thymidine44 2410.5IBSP, GNAS, GH1, ALPP, TRH, SPARC
42steroid449.5SPARC, IBSP, CYP19A1, GNAS, GNRH1, PRL
43vitamin d449.5ALPP, SLC34A1, SPARC, FGF23, CYP19A1, IBSP
44thyroxine44 2410.4GH1, GNRH1, DIO1, DIO2, PRL, TRH
45testosterone44 59 11 2412.3AMH, GNRH1, GH1, PRL, CYP19A1, TRH
46arginine449.2GH1, GNRH1, GNAS, TRH, PRL, ADCY1
47progesterone44 59 28 11 2413.2GNRH1, GNAS, AMH, GH1, PRL, TRH
48heparin44 28 11 2412.0SPARC, FGF23, GH1, GNRH1, IBSP, ALPP
49dexamethasone44 49 28 1111.8SPARC, ALPP, CFD, LMOD1, TRH, PRL
50calcium44 49 11 2411.8FGF23, ADCY1, IBSP, ALPP, SPARC, SLC34A1

GO Terms for genes affiliated with Mccune Albright Syndrome

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16Gene Ontology
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Cellular components related to Mccune Albright Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extrinsic to internal side of plasma membraneGO:0312349.8GNA11, GNAS, GNA15
2heterotrimeric G-protein complexGO:0058349.6GNA15, GNAS, GNA11
3extracellular spaceGO:0056159.4GNRH1, GH1, FGF23, CFD, SPARC, AMH
4extracellular regionGO:0055768.7SPARC, IBSP, AMH, GNAS, GNRH1, GH1

Biological processes related to Mccune Albright Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1phosphate ion homeostasisGO:05506210.4SLC34A1, FGF23
2ovulation cycleGO:04269810.3GNRH1, PRL
3phospholipase C-activating dopamine receptor signaling pathwayGO:06015810.2GNA11, GNA15
4response to lead ionGO:01028810.2SLC34A1, SPARC
5cAMP biosynthetic processGO:00617110.2ADCY1, GNAS
6thyroid hormone generationGO:00659010.2DIO2, DIO1
7female pregnancyGO:00756510.1PRL, GNRH1, GNAS
8hormone biosynthetic processGO:04244610.1DIO2, DIO1
9response to ethanolGO:0454719.9SPARC, TRH, PRL, GNRH1
10positive regulation of JAK-STAT cascadeGO:0464279.8PRL, GH1
11platelet activationGO:0301689.8GNA11, GNA15, CFD, SPARC
12response to drugGO:0424939.8AMH, GNAS, PRL, ADCY1
13blood coagulationGO:0075969.7SPARC, CFD, GNA15, GNAS, GNA11

Molecular functions related to Mccune Albright Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1selenium bindingGO:00843010.2DIO2, DIO1
2thyroxine 5-deiodinase activityGO:00480010.1DIO2, DIO1
3G-protein beta/gamma-subunit complex bindingGO:0316839.9GNA11, GNAS, GNA15
4hormone activityGO:0051799.9PRL, GH1, GNRH1, AMH
5prolactin receptor bindingGO:0051489.8PRL, GH1

Products for genes affiliated with Mccune Albright Syndrome

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  • Antibodies
  • Proteins
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Sources for Mccune Albright Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet