Cushing Disease

Description

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

Clinical Features

Top most frequent phenotypes and symptoms related to Cushing Disease

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Immunodeficiency
  • Headache
  • Depressivity

And another 31 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 CUSHING DISEASE have a estimated incidence of 0.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Cushing Disease Is also known as corticotroph pituitary adenoma, pituitary-dependent cushing syndrome, pituitary corticotroph micro-adenoma.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cushing Disease 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
50 %
CDH23 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CDH23
Specificity
100 %
Genes
50 %
CDH23 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

CDH23
Specificity
100 %
Genes
50 %
CDH23 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CDH23
Specificity
100 %
Genes
50 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
50 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %

You can get up to 74 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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