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IllnessCushing-Syndrom, Nebennieren-Hyperplasie; Differentialdiagnose

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Summary

Short information

CP5912_KI

ID
CP5912
Number of loci
Loci typeCount
Gen13
Accredited laboratory test
Examined sequence length
7,8 kb (Core-/Core-canditate-Genes)
34,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

CP5912_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ARMC52808NM_001105247.2AD
PDE11A1470NM_001077196.2AD
PDE8B2367NM_001029851.4AD
PRKAR1A1146NM_002734.5AD
APC8532NM_000038.6AD
CDKN1B597NM_004064.5AD
DICER15769NM_177438.3AD
GNAS1185NM_000516.7; NM_016592.3; NM_080425.3SMu
MC2R894NM_000529.2n.k.
MEN11833NM_130799.2AD
PRKACA1056NM_002730.4n.k.
USP483259NM_001032730.3n.k., SMu
USP83357NM_005154.5n.k., SMu

Informations about the disease

Clinical Comment

illness_ClinicalComment_CP5912

 

Synonyms
  • Alias: ACTH-independent macronodular adrenocortical hyperplasia
  • Alias: Adrenal Cushing syndrome due to AIMAH
  • Alias: Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
  • Alias: Corticotropin-independent macronodular adrenal hyperplasia
  • Alias: Primary bilateral macronodular adrenal hyperplasia
  • Allelic: Acrodysostosis 1, +/- hormone resistance (PRKAR1A)
  • Allelic: Adenomatous polyposis coli (APC)
  • Allelic: Brain tumor-polyposis syndrome 2 (APC)
  • Allelic: Carcinoid tumor of lung (MEN1)
  • Allelic: Cardioacrofacial dysplasia 1 (PRKACA)
  • Allelic: Carney complex, type 1 (PRKAR1A)
  • Allelic: Congenital Adrenal Hypoplasia (MC2R)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Fumarase deficiency (FH)
  • Allelic: Gardner syndrome (APC)
  • Allelic: Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Allelic: Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
  • Allelic: Ideopathic Primary Adrenal Failure (MC2R)
  • Allelic: Leiomyomatosis + renal cell cancer (FH)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Multiple endocrine neoplasia 1 (MEN1)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Allelic: Pseudohypoparathyroidism Ia (GNAS)
  • Allelic: Pseudohypoparathyroidism Ib (GNAS)
  • Allelic: Pseudohypoparathyroidism Ic (GNAS)
  • Allelic: Pseudopseudohypoparathyroidism (GNAS)
  • Allelic: Striatal degeneration, AD (PDE8B)
  • ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • ACTH-independent macronodular adrenal hyperplasia 2 (ARMC5)
  • Bilateral adrenal hyperplasia (APC, FH, MC2R, MEN1)
  • Cushing syndrome, ACTH-independent adrenal, somatic (PRKACA)
  • Isolated micronodular adrenal hyperplasia (PDE11B, PDE8B)
  • Macronodular adrenal hyperplasia (GNAS)
  • Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Pigmented nodular adrenocortical disease, primary, 2 (PDE11A)
  • Pigmented nodular adrenocortical disease, primary, 3 (PDE8B)
  • Primary bilateral macronodular adrenal hyperplasia (APC, ARMC5, MEN1, MC2R, PRKACA)
  • Primary pigmented micronodular adrenal dysplasia (PRKAR1A)
Heredity, heredity patterns etc.
  • AD
  • SMu
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined