Mccune-albright Syndrome

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).

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.

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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



Mendelian

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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
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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