Mccune-albright syndrome

Preferred Label : Mccune-albright syndrome;

Symbol : MAS;

CISMeF acronym : MAS; PFD; POFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Albright syndrome;

Included titles and symbols : Polyostotic fibrous dysplasia; PFD; POFD;

Description : 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).;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (GNAS1, 139320.0008);

Neoplasia : Pituitary adenoma;

Prefixed ID : #174800;

Details

Origin ID

174800;

UMLS CUI

C0242292;

Automatic exact mappings (from CISMeF team)
- Ashworth assessment scale (assessment scale) [SNOMED CT concept]
- CFD wt Allele [NCIt concept]
- CFP wt Allele [NCIt concept]
- Doxorubicin/Mitomycin [NCIt concept]
- MAS1 wt Allele [NCIt concept]
- Ma+Ta Ab [LOINC component]
- Maasai Language [NCIt concept]
- Macrophage Activation Syndrome [NCIt concept]
- Massachusetts [NCIt concept]
- Massaging [ICNP action]
- McCune-Albright syndrome [ICD-11 More detail]
- Milliampere second [NCIt concept]
- Polyostotic fibrous dysplasia [ICD-11 More detail]
- lasers [MeSH Descriptor]
- masers [MeSH concept]
- microtubule organizing center attachment site [GO term]
- polyostotic fibrous dysplasia [Radlex concept]
Currated CISMeF NLP mapping
- Albright disease [Disease (Nov.)]
- Albright's disease [MedDRA Preferred Term]
- Bioconductor caAffy MAS Probe Summary Method [NCIt concept]
- Master of Arts [NCIt concept]
- McCune Albright syndrome [DO Concept]
- McCune Albright syndrome (disorder) [SNOMED CT concept]
- McCune-Albright Syndrome [NCIt concept]
- McCune-Albright syndrome [ORDO Disease]
- McCune-Albright syndrome [MedDRA LLT]
- Meconium Aspiration Syndrome [NCIt concept]
- Neonatal aspiration of meconium [ICD-11 Subcategory]
- Polyostotic Fibrous Dysplasia [NCIt concept]
- Polyostotic fibrous dysplasia [ORDO Disease]
- Polyostotic fibrous dysplasia [HPO term]
- Polyostotic fibrous dysplasia [ICD-10 Sub-category]
- Polyostotic fibrous dysplasia of bone (disorder) [SNOMED CT concept]
- albright syndrome [MeSH concept]
- fibrous dysplasia, polyostotic [MeSH concept]
- fibrous dysplasia, polyostotic [MeSH Descriptor]
- mA (qualifier value) [Inactive SNOMED CT concept]
- mccune-albright syndrome [SNOMED Notion]
DO Cross reference
- McCune Albright syndrome [DO Concept]
False automatic mappings
- Madagascar [NCIt concept]
- Morocco [NCIt concept]
Genes related to phenotype
- Gnas complex locus [OMIM gene]
HPO term(s)
- Blindness [HPO term]
- Craniofacial hyperostosis [HPO term]
- Cushing syndrome [HPO term]
- Deafness [HPO term]
- Elevated circulating growth hormone concentration [HPO term]
- Facial asymmetry [HPO term]
- Hearing impairment [HPO term]
- Hyperparathyroidism [HPO term]
- Hyperthyroidism [HPO term]
- Increased circulating cortisol level [HPO term]
- Increased circulating prolactin concentration [HPO term]
- Intestinal polyposis [HPO term]
- Large cafe-au-lait macules with irregular margins [HPO term]
- Pathologic fracture [HPO term]
- Pituitary adenoma [HPO term]
- Polyostotic fibrous dysplasia [HPO term]
- Precocious puberty [HPO term]
- Somatic mosaicism [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- McCune-Albright syndrome [ORDO Disease]
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 [NCIt concept]
- McCune-Albright syndrome [MedDRA LLT]
- McCune-Albright syndrome [ORDO Disease]
- albright syndrome [MeSH concept]
- mccune-albright syndrome [SNOMED Notion]

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