Preferred Name |
McCune-Albright Syndrome |
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Synonyms |
McCune-Albright Syndrome McCune Albright Syndrome MAS |
|
Definitions |
A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48627 |
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ALT_DEFINITION |
A syndrome caused by activating somatic mutation(s) in the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This syndrome is characterized most commonly by irregular (coast of Maine) cafe-au-lait skin pigmentation, polyostotic fibrous dysplasia, and gonadotropin-independent precocious puberty due to primary gonadal hyperfunction. Other clinical features may include hyperthyroidism, goiter, thyroid nodules, hyperadrenocorticolism, growth hormone excess, and phosphate wasting. |
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code |
C48627 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
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Contributing_Source |
NICHD PCDC |
|
DEFINITION |
A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. |
|
FULL_SYN |
McCune-Albright Syndrome McCune Albright Syndrome MAS |
|
label |
McCune-Albright Syndrome |
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Legacy Concept Name |
McCune-Albright_Syndrome |
|
Preferred_Name |
McCune-Albright Syndrome |
|
prefixIRI |
Thesaurus:C48627 |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0242292 |
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subClassOf |