Mccune-albright Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

Genes related to Mccune-albright Syndrome

GNAS

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Mccune-albright Syndrome

Optic atrophy
Macrocephaly
Abnormality of the dentition
Kyphosis
Mandibular prognathia
Skeletal dysplasia
Elevated hepatic transaminase
Abnormality of the eye
Carious teeth
Recurrent fractures

And another 25 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available MCCUNE-ALBRIGHT SYNDROME have a estimated prevalence of 0.55 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Mccune-albright Syndrome Is also known as gonadotropin-independent female-limited sexual precocity.

Researches and researchers

Doctors, researchs, and experts related to Mccune-albright Syndrome extracted from public data.

Mccune-albright Syndrome Experts map

Current Researchs and researchers

ROMA — Pr Mara RIMINUCCI
Investigator of research project
- 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

Mccune-albright Syndrome 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 Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A 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 Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 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 Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 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 Panel complete gene list SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9, IFT172, DYRK1B, ALMS1, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, POMC, BBS1, BBS2, BBS4, BBS5 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

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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