CYSTIC FIBROSIS (CF)

Question 1

What is  CYSTIC FIBROSIS (CF)?

Accepted Answer

rare (1:5000)
autosomal recessive
mutation in the cystic fibrosis conductance regulator gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zystische Fibrose; Mukoviszidose; Clarke-Hadfield-Syndrom; CF

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 219700

Question 4

Which enzymes are involved?

Accepted Answer

cystic fibrosis transmembrane conductance regulator (CFTR)

Disease	CYSTIC FIBROSIS (CF)
Synonym	CYSTIC FIBROSIS; CYSTIC FIBROSIS
OMIM	219700 OMIM = Online Mendelian Inheritance of Men
Orphanet	586
Protein (UniProt)	cystic fibrosis transmembrane conductance regulator (CFTR)
ExPASy	3.6.3.49
Gene locus	1q23.3, 7q31.2, 19q13.2
ICD	E84.0/1/8/9
Summary	rare (1:5000) autosomal recessive mutation in the cystic fibrosis conductance regulator gene
Laboratory findings	Calcium inc (urine) Chloride inc (sweat) Immunreactive trypsinogen [+] inc (serum, blood spots) Sodium inc (sweat) Vitamin A dec (serum) Vitamin D dec (serum) Vitamin H dec (serum)
Symptoms	cor pulmonale nasal polyposis rectal prolaps amyloidosis anosmia bronchiectasia cirrhosis or fibrosis of liver diabetes mellitus DNA failure to thrive gallstones, cholelithiasis Glucose tolerance, impaired growth retardation, poor growth ileus infections (severe or recurrent) jaundice liver failure obstructive airway disease onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal osteoporosis pancreatic insufficiency pneumonia pseudotumor cerebri pulmonary hypertension respiratory insufficiency