Mccune-Albright Syndrome, Somatic, Mosaic malady
Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
Aliases & Descriptions for Mccune-Albright Syndrome, Somatic, Mosaic:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases
ICD10: 26 25
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
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
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 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: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.
OMIM:46 Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic... (174800) more...
Symptoms by clinical synopsis from OMIM:174800
Clinical features from OMIM:174800
Symptoms:48 (show all 35)
HPO human phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:(show all 48)
MalaCards organs/tissues related to Mccune-Albright Syndrome, Somatic, Mosaic:31
Bone, Skin, Pituitary, Thyroid, Breast, Ovary, Eye
UniProtKB/Swiss-Prot genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:63
Clinvar genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:5
Search GEO for disease gene expression data for Mccune-Albright Syndrome, Somatic, Mosaic.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet