Frasier Syndrome

Description

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

Clinical Features

Top most frequent phenotypes and symptoms related to Frasier Syndrome

  • Neoplasm
  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Amenorrhea
  • Nephrotic syndrome
  • Primary amenorrhea
  • Hypergonadotropic hypogonadism
  • Nephroblastoma

And another 12 symptoms. If you need more information about this disease we can help you.

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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.

Researches and researchers

Doctors, researchs, and experts related to Frasier Syndrome extracted from public data.

Frasier Syndrome Experts map



Current Researchs and researchers

  • HAMBURG — Dr Anja LEHNHARDT

    Investigator of research project - Manager of registry

    • Institution/s:
      — UKE - Universitätsklinikum Hamburg-Eppendorf
    • Research area/topic::

      Genotype-phenotype correlation of patients with WT1 gene mutation



Mendelian

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Frasier Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
100 %
WT1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

WT1
Specificity
100 %
Genes
100 %
WT1-Related Disorders - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

WT1
Specificity
100 %
Genes
100 %
WT1-Related Disorders - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

WT1
Specificity
100 %
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 %

We have 163 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOOTH AGENESIS, SELECTIVE, 1; STHAG1 STICKLER SYNDROME, TYPE I; STL1 SALIH MYOPATHY; SALMY MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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