Cystic fibrosis

General Information (adopted from Orphanet):

Synonyms, Signs: CF
mucoviscidosis
Number of Symptoms 35
OrphanetNr: 586
OMIM Id: 219700
ICD-10: E84
UMLs: C0010674
MeSH: D003550
MedDRA: 10011762
Snomed: 190905008

Prevalence, inheritance and age of onset:

Prevalence: 12.6 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic pancreatic disease
 -Rare genetic disease
Rare genetic respiratory disease
 -Rare genetic disease
Rare pancreatic disease
 -Rare gastroenterologic disease
Rare pulmonary disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0002150) Hypercalciuria 45 / 7739
2
(HPO:0003251) Male infertility 14 / 7739
3
(HPO:0004401) Meconium ileus 4 / 7739
4
(HPO:0001738) Exocrine pancreatic insufficiency common [HPO] 23 / 7739
5
(HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
6
(HPO:0002035) Rectal prolapse 11 / 7739
7
(HPO:0001080) Biliary tract abnormality Very frequent [Orphanet] 26 / 7739
8
(HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
9
(HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
10
(HPO:0002613) Biliary cirrhosis 11 / 7739
11
(HPO:0001508) Failure to thrive 454 / 7739
12
(HPO:0001648) Cor pulmonale 16 / 7739
13
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
14
(HPO:0001944) Dehydration Rare [HPO:skoehler] 59 / 7739
15
(HPO:0012236) Elevated sweat chloride 5 / 7739
16
(HPO:0006532) Recurrent pneumonia 48 / 7739
17
(HPO:0002110) Bronchiectasis 73 / 7739
18
(HPO:0002206) Pulmonary fibrosis Very frequent [Orphanet] 51 / 7739
19
(HPO:0006528) Chronic lung disease 5 / 7739
20
(HPO:0006538) Recurrent bronchopulmonary infections 6 / 7739
21
(HPO:0002099) Asthma 62 / 7739
22
(HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
23
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
24
(OMIM) High newborn serum levels of immunoreactive trypsinogen 1 / 7739
25
(OMIM) Abnormal nasal potential differences 1 / 7739
26
(OMIM) Pseudomonas colonization 1 / 7739
27
(OMIM) Male infertility (98%) due to congenital bilateral absence of the vas deferens (CBAVD) 1 / 7739
28
(OMIM) Pancreatic insufficiency in 80% 1 / 7739
29
(OMIM) High sweat sodium and chloride 1 / 7739
30
(OMIM) Female decreased fertility due to thickened cervical secretions and chronic lung disease 1 / 7739
31
(OMIM) Hyponatremic dehydration, rarely 1 / 7739
32
(OMIM) Chronic bronchopulmonary infection 2 / 7739
33
(OMIM) Adenocarcinoma of the ileum 1 / 7739
34
(OMIM) Pulmonary blebs 2 / 7739
35
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary ...
Diagnosis OMIM Boue et al. (1986) reported on prenatal diagnostic studies in 200 pregnancies with a presumed 1-in-4 risk of recurrence of cystic fibrosis. The method involved measurement of total enzymes and isoenzymes of gamma-glutamyl-transpeptidase, aminopeptidase M, and alkaline phosphatase ...
Clinical Description OMIM The mildest extreme of CF is represented by patients not diagnosed until middle age (Scully et al., 1977). The phenotypic variability in CF was analyzed by Sing et al. (1982). In an inbred kindred in North Carolina, a ...
Genotype-Phenotype Correlations OMIM Wine (1992) pointed out that CFTR mutations associated with pancreatic sufficiency, milder pulmonary disease, and improved sweat gland function are associated with residual CFTR chloride-ion channel function. He questioned the disruptive effects proposed for the delF508 mutation because ...
Molecular genetics OMIM For an extensive discussion of the molecular genetics of cystic fibrosis and a listing of allelic variants of the CFTR gene, see 602421.

Collins (1992) gave an update concerning the molecular biology of CF and the ...

Population genetics OMIM Attempting total ascertainment of cases in white children born alive in Ohio during the years 1950 through 1953, Steinberg and Brown (1960) estimated the phenotype frequency to be about 1 in 3,700, a value only about one-fourth that ...