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Cystic fibrosis

Disease Export to PDF
Name:
Cystic fibrosis
Description:
A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.
ORPHAcode:
586
Synonyms:
CF
Mucoviscidosis
XREF(s):
Orphanet
ICD-10
ICD-10
OMIM
MeSH
MedDRA
ICD-10
Analyte(s):
SERPINA1
SLC26A9
SLC6A14
SLC9A3
CEACAM3
CEACAM6
EDNRA
GSTM3
HMOX1
GCLC
HFE
CFTR
TGFB1
DCTN4
CLCA4
STX1A
KCNN4
MIF
SLC11A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Bronchiectasis (4 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Part of Gastro-Pneumo panel + analysis of rs397508266 + rs397508261 + rs201716473 + rs76151804 + rs75039782
    SCNN1A 100.00 1 Part of Gastro-Pneumo panel
    SCNN1B 100.00 1 Part of Gastro-Pneumo panel
    SCNN1G 100.00 1 Part of Gastro-Pneumo panel
  • Pulmonary/Bronchiectasies (5 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 NM_000492.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SERPINA1 100.00 1 NM_000295.5