Mccune-albright Syndrome; Mas
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 (OMIM ) (Lumbroso et al., 2004).
Clinical Features
Top most frequent phenotypes and symptoms related to Mccune-albright Syndrome; Mas
- Hearing impairment
- Neoplasm
- Abnormal facial shape
- Depressed nasal bridge
- Blindness
- Vomiting
- Congestive heart failure
- Hypogonadism
- Hyperactivity
- Hypothyroidism
And another 54 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Mccune-albright Syndrome; Mas Is also known as albright syndrome.
Researches and researchers
Doctors, researchs, and experts related to Mccune-albright Syndrome; Mas extracted from public data.
Mccune-albright Syndrome; Mas Experts map
Current Researchs and researchers
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ROMA — Pr Mara RIMINUCCI
Investigator of research project
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Institution/s:
— Sapienza Università di Roma - Facoltà di Medicina e Chirurgia -
Research area/topic::
Fibrous Dysplasia: A roadmap to treatment enabled by discovery of unpredicted mechanisms in first-in-class mouse models
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Institution/s:
Mccune-albright Syndrome; Mas Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Pseudohypoparathyroidism Type 1B.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
GNAS
Specificity
100 %
Genes
100 % |
Pseudohypoparathyroidism Type 1A.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
GNAS
Specificity
100 %
Genes
100 % |
Albright Hereditary Osteodystrophy (GNAS).
By Center for Genetics at Saint Francis Saint Francis Hospital (United States).
GNAS
Specificity
100 %
Genes
100 % |
Platelet Disorders.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)
View the complete list with 32 more genes
Specificity
2 %
Genes
100 % |
MyeloidDx by NGS.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)
View the complete list with 31 more genes
Specificity
2 %
Genes
100 % |
Monogenic Obesity Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)
View the complete list with 18 more genes
Specificity
3 %
Genes
100 % |
Hypoparathyroidism Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
6 %
Genes
100 % |
You can get up to 116 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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