McCune-Albright Syndrome

Preferred Label : McCune-Albright Syndrome;

NCIt synonyms : MAS;

NCIt related terms : McCune Albright Syndrome;

NCIt 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.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C48627;

UMLS CUI

C0242292;

Currated CISMeF NLP mapping
- Albright disease [Disease (Nov.)]
- Albright's disease [MedDRA Preferred Term]
- McCune Albright syndrome [DO Concept]
- McCune Albright syndrome (disorder) [SNOMED CT concept]
- McCune-Albright syndrome [ORDO Disease]
- McCune-Albright syndrome [MedDRA LLT]
- Mccune-albright syndrome [OMIM Phenotype]
- Neonatal aspiration of meconium [ICD-11 Subcategory]
- Polyostotic fibrous dysplasia of bone (disorder) [SNOMED CT concept]
- albright syndrome [MeSH concept]
- fibrous dysplasia, polyostotic [MeSH Descriptor]
- mA (qualifier value) [Inactive SNOMED CT concept]
- mccune-albright syndrome [SNOMED Notion]
False automatic mappings
- Migraine with or without aura, susceptibility to, 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albright's disease [MedDRA Preferred Term]
- McCune Albright syndrome (disorder) [SNOMED CT concept]
- McCune-Albright syndrome [ORDO Disease]
- McCune-Albright syndrome [MedDRA LLT]
- Mccune-albright syndrome [OMIM Phenotype]
- albright syndrome [MeSH concept]
- mccune-albright syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Fibrous Dysplasia [NCIt concept]
disease_has_finding
- Cafe Au Lait Spot [NCIt concept]
- Precocious Puberty [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- GNAS Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 20 [NCIt concept]
disease_mapped_to_gene
- GNAS Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- GNAS Gene [NCIt concept]
- GNAS wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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