MCID: MCC010
MIFTS: 40

Mccune-Albright Syndrome, Somatic, Mosaic malady

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

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

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Sources:
60UMLS, 45OMIM, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 9Disease Ontology, 20GeneTests, 11DISEASES, 22GTR, 43Novoseek, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Mccune-Albright Syndrome, Somatic, Mosaic, Aliases & Descriptions:

Name: Mccune-Albright Syndrome, Somatic, Mosaic 45
Mccune-Albright Syndrome 45 10 63 41 21 47 60
Polyostotic Fibrous Dysplasia 9 63 21 47 60
Mccune Albright Syndrome 9 41 20 11 22
Osteitis Fibrosa Disseminata 9 21 60
Gonadotropin-Independent Female-Limited Sexual Precocity 41 47
Fibrous Dysplasia of Bone 9 47
Osteofibrous Dysplasia 47 60
Albright's Disease 41 21
Albright Syndrome 41 21
Pofd 41 21
Pfd 41 21
 
Mas 41 21
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 21
Albright's Syndrome with Precocious Puberty 21
Albright-Mccune-Sternberg Syndrome 21
Fibrous Dysplasia, Polyostotic 21
Properdin Deficiency, X-Linked 60
Fibrous Dysplasia Polyostotic 43
Albright-Sternberg Syndrome 21
Albright's Disease of Bone 21
Albright's Syndrome 21
Fibrous Dysplasia 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 174800
Disease Ontology9 DOID:1858
MeSH33 D005357
Orphanet47 562, 249, 93276
MESH via Orphanet34 D005359, D005357
ICD10 via Orphanet26 Q78.1
UMLS via Orphanet61 C0242292, C0016063, C0016065
ICD1025 Q78.1

Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

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NIH Rare Diseases:41 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 based summary: Mccune-Albright Syndrome, Somatic, Mosaic, also known as mccune-albright syndrome, is related to fibrous dysplasia and precocious puberty, and has symptoms including precocious puberty, cafe-au-lait spot and hypophosphatemia. An important gene associated with Mccune-Albright Syndrome, Somatic, Mosaic is GNAS (GNAS complex locus). Affiliated tissues include bone, skin and pituitary.

Disease Ontology:9 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.

OMIM:45 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...

Related Diseases for Mccune-Albright Syndrome, Somatic, Mosaic

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



Diseases related to mccune-albright syndrome, somatic, mosaic

Symptoms for Mccune-Albright Syndrome, Somatic, Mosaic

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Symptoms by clinical synopsis from OMIM:

174800

Clinical features from OMIM:

174800

Symptoms:

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

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

(show all 48)
id Description Frequency HPO Source Accession
1 precocious puberty hallmark (90%) HP:0000826
2 cafe-au-lait spot hallmark (90%) HP:0000957
3 hypophosphatemia hallmark (90%) HP:0002148
4 skeletal dysplasia hallmark (90%) HP:0002652
5 bone pain hallmark (90%) HP:0002653
6 recurrent fractures hallmark (90%) HP:0002757
7 reduced bone mineral density hallmark (90%) HP:0004349
8 generalized hyperpigmentation hallmark (90%) HP:0007440
9 enlarged penis occasional (7.5%) HP:0000040
10 macroorchidism occasional (7.5%) HP:0000053
11 tall stature occasional (7.5%) HP:0000098
12 polycystic ovaries occasional (7.5%) HP:0000147
13 abnormality of the palate occasional (7.5%) HP:0000174
14 macrocephaly occasional (7.5%) HP:0000256
15 mandibular prognathia occasional (7.5%) HP:0000303
16 hearing abnormality occasional (7.5%) HP:0000364
17 optic atrophy occasional (7.5%) HP:0000648
18 carious teeth occasional (7.5%) HP:0000670
19 abnormality of dental enamel occasional (7.5%) HP:0000682
20 dental malocclusion occasional (7.5%) HP:0000689
21 hyperthyroidism occasional (7.5%) HP:0000836
22 hyperparathyroidism occasional (7.5%) HP:0000843
23 goiter occasional (7.5%) HP:0000853
24 hypercortisolism occasional (7.5%) HP:0001578
25 abnormality of coagulation occasional (7.5%) HP:0001928
26 kyphosis occasional (7.5%) HP:0002808
27 elevated hepatic transaminases occasional (7.5%) HP:0002910
28 testicular neoplasm occasional (7.5%) HP:0010788
29 neoplasm of the breast occasional (7.5%) HP:0100013
30 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
31 sarcoma occasional (7.5%) HP:0100242
32 facial asymmetry HP:0000324
33 hearing impairment HP:0000365
34 blindness HP:0000618
35 precocious puberty HP:0000826
36 hyperthyroidism HP:0000836
37 hyperparathyroidism HP:0000843
38 growth hormone excess HP:0000845
39 prolactin excess HP:0000870
40 somatic mosaicism HP:0001442
41 hypercortisolism HP:0001578
42 pathologic fracture HP:0002756
43 pituitary adenoma HP:0002893
44 phenotypic variability HP:0003812
45 craniofacial hyperostosis HP:0004493
46 large cafe-au-lait macules with irregular margins HP:0005605
47 polyostotic fibrous dysplasia HP:0010735
48 intestinal polyposis HP:0200008

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

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Drug clinical trials:

Search ClinicalTrials for Mccune-Albright Syndrome, Somatic, Mosaic

Search NIH Clinical Center for Mccune-Albright Syndrome, Somatic, Mosaic

Genetic Tests for Mccune-Albright Syndrome, Somatic, Mosaic

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

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

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

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

31
Bone, Skin, Pituitary, Thyroid, Breast, Ovary, Eye

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

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Publications for Mccune-Albright Syndrome, Somatic, Mosaic

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Variations for Mccune-Albright Syndrome, Somatic, Mosaic

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

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

Clinvar genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.2(GNAS): c.604C> T (p.Arg202Cys)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_001077488.2(GNAS): c.605G> A (p.Arg202His)single nucleotide variantPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_001077488.2(GNAS): c.604C> G (p.Arg202Gly)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420

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

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

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

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

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

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

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Sources for Mccune-Albright Syndrome, Somatic, Mosaic

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3CDC
13ExPASy
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet