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Acromegaly

Disease Export to PDF
Name:
Acromegaly
Description:
A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
ORPHAcode:
963
XREF(s):
Orphanet
OMIM
OMIM
MeSH
MedDRA
ICD-10
Analyte(s):
AIP
GPR101
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Pituitary adenoma (4 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MEN1 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    AIP 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    CDKN1B 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    PRKAR1A 100.00 0 Coding exons and intronic borders +-14bp (Sanger sequencing)
  • Pituitary adenoma (5 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of custom Onco-endocrino panel
    MEN1 100.00 1 Part of custom Onco-endocrino panel
    RET 100.00 1 Part of custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of custom Onco-endocrino panel