ORPHA:586
Cystic fibrosis
Synonyms: CF · Mucoviscidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystic fibrosis | CF · Mucoviscidosis |
| fr | Mucoviscidose | CF · Fibrose kystique du pancréas |
| de | Zystische Fibrose | CF · Mukoviszidose |
| es | Fibrosis quística | FQ · Mucoviscidosis |
| it | Fibrosi cistica | FC · Mucoviscidosi |
| nl | Taaislijmziekte | CF · Cystische fibrose · Mucoviscidose |
| pt | Fibrose quística | Mucoviscidose |
| pl | Mukowiscydoza | CF |
| cs | Cystická fibróza | CF · Mukoviscidóza |
| uk | Кістозний фіброз | CF · Муковісцидоз |
| zh | 囊性纤维化 | 粘液粘稠病 |
| tr | Kistik fibrozis | CF · Mukovisidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219700 | E | validated | |
| ICD-10 | E84 | E | specific | validated |
| ICD-10 | E84.0 | BTNT | specific | validated |
| ICD-10 | E84.1 | BTNT | specific | validated |
| ICD-10 | E84.8 | BTNT | specific | validated |
| ICD-11 | CA25 | E | specific | validated |
| MONDO | 0009061 | E | validated | |
| MeSH | D003550 | E | validated | |
| UMLS | C0010674 | E | validated | |
| GARD | 6233 | E | validated | |
| MedDRA | 10011762 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:506222Rare disorder potentially indicated for lung transplant
rare transplant-related disorders - ORPHA:399824Rare disorder with obstructive azoospermia
rare infertility disorders - ORPHA:400003Rare genetic disorder with obstructive azoospermia
rare genetic diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98113OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly referred to · inactive
4
Genes
19 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFTR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1884 | ENSG00000001626 | 602421 | 7q31.2 | CF transmembrane conductance regulator | 22214395[PMID] |
| CEACAM3 | Modifying germline mutation in | Assessed | HGNC:1815 | ENSG00000170956 | 609142 | 19q13.2 | CEA cell adhesion molecule 3 | 20047061[PMID] |
| CEACAM6 | Modifying germline mutation in | Assessed | HGNC:1818 | ENSG00000086548 | 163980 | 19q13.2 | CEA cell adhesion molecule 6 | 20047061[PMID] |
| CLCA4 | Modifying germline mutation in | Assessed | HGNC:2018 | ENSG00000016602 | 616857 | 1p22.3 | chloride channel accessory 4 | 23073314[PMID] |
| DCTN4 | Modifying germline mutation in | Assessed | HGNC:15518 | ENSG00000132912 | 614758 | 5q33.1 | dynactin subunit 4 | 22772370[PMID] |
| EDNRA | Modifying germline mutation in | Assessed | HGNC:3179 | ENSG00000151617 | 131243 | 4q31.22-q31.23 | endothelin receptor type A | 20028935[PMID] |
| GCLC | Modifying germline mutation in | Assessed | HGNC:4311 | ENSG00000001084 | 606857 | 6p12.1 | glutamate-cysteine ligase catalytic subunit | 16690975[PMID] |
| GSTM3 | Modifying germline mutation in | Assessed | HGNC:4635 | ENSG00000134202 | 138390 | 1p13.3 | glutathione S-transferase mu 3 | 28289476[PMID] |
| HFE | Modifying germline mutation in | Assessed | HGNC:4886 | ENSG00000010704 | 613609 | 6p22.2 | homeostatic iron regulator | 30291871[PMID] |
| HMOX1 | Modifying germline mutation in | Assessed | HGNC:5013 | ENSG00000100292 | 141250 | 22q12.3 | heme oxygenase 1 | 28289476[PMID] |
| KCNN4 | Modifying germline mutation in | Assessed | HGNC:6293 | ENSG00000104783 | 602754 | 19q13.31 | potassium calcium-activated channel subfamily N member 4 | 29915289[PMID] |
| MIF | Modifying germline mutation in | Assessed | HGNC:7097 | ENSG00000240972 | 153620 | 22q11.23 | macrophage migration inhibitory factor | 16179637[PMID] |
| SERPINA1 | Modifying germline mutation in | Assessed | HGNC:8941 | ENSG00000197249 | 107400 | 14q32.13 | serpin family A member 1 | 19738092[PMID] |
| SLC11A1 | Modifying germline mutation in | Assessed | HGNC:10907 | ENSG00000018280 | 600266 | 2q35 | solute carrier family 11 member 1 | 28756021[PMID] |
| SLC26A9 | Modifying germline mutation in | Assessed | HGNC:14469 | ENSG00000174502 | 608481 | 1q32.1 | solute carrier family 26 member 9 | 28756021[PMID] |
| SLC6A14 | Modifying germline mutation in | Assessed | HGNC:11047 | ENSG00000268104 | 300444 | Xq23 | solute carrier family 6 member 14 | 28756021[PMID] |
| SLC9A3 | Modifying germline mutation in | Assessed | HGNC:11073 | ENSG00000066230 | 182307 | 5p15.33 | solute carrier family 9 member A3 | 28756021[PMID] |
| STX1A | Modifying germline mutation in | Assessed | HGNC:11433 | ENSG00000106089 | 186590 | 7q11.23 | syntaxin 1A | 23572023[PMID] |
| TGFB1 | Modifying germline mutation in | Assessed | HGNC:11766 | ENSG00000105329 | 190180 | 19q13.2 | transforming growth factor beta 1 | 18424453[PMID] |
5
Prevalence and incidence
62 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 13.1995 / 100 000 | Brazil | Value and class | Validated | 35209917[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.7786 / 100 000 | China | Value and class | Validated | 35313924[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 19.3912 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 11.1319 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 28.5714 / 100 000 | Austria | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.39 / 100 000 | Austria | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 35.0877 / 100 000 | Belgium | Value and class | Validated | 30335254[PMID] |
| Point prevalence | 1-5 / 10 000 | 20.1429 / 100 000 | Belgium | Value and class | Validated | 30335254[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 40 / 100 000 | Bulgaria | Value and class | Validated | 18442953 [PMID] |
| Point prevalence | 1-9 / 100 000 | 2.26 / 100 000 | Bulgaria | Value and class | Validated | 18442953 [PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.6358 / 100 000 | Cyprus | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.35 / 100 000 | Cyprus | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 15.29 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.7775 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 17.41 / 100 000 | Denmark | Value and class | Validated | 31682332[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.9946 / 100 000 | Denmark | Value and class | Validated | 31682332[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 22.2222 / 100 000 | Estonia | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.18 / 100 000 | Estonia | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Finland | Value and class | Validated | 16051530[PMID]_18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1027 / 100 000 | Finland | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 21.15 / 100 000 | France | Value and class | Validated | 25122143[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.1416 / 100 000 | France | Value and class | Validated | 25122143[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 19.5017 / 100 000 | Germany | Value and class | Validated | 25914230[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.1954 / 100 000 | Germany | Value and class | Validated | 25914230[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 28.5714 / 100 000 | Greece | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.21 / 100 000 | Greece | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | Unknown | — | Hungary | Class only | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.09 / 100 000 | Hungary | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 36.36 / 100 000 | Ireland | Value and class | Validated | 32483343[PMID] |
| Point prevalence | 1-5 / 10 000 | 20.8733 / 100 000 | Ireland | Value and class | Validated | 32483343[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 17.809 / 100 000 | Italy | Value and class | Validated | 31005549[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.2236 / 100 000 | Italy | Value and class | Validated | 31005549[PMID]_ORPHANET |
| Prevalence at birth | Unknown | — | Latvia | Class only | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.04 / 100 000 | Latvia | Value and class | Validated | 18442953[PMID] |
| Prevalence at birth | Unknown | — | Lithuania | Class only | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Lithuania | Value and class | Validated | 18442953[PMID] |
| Prevalence at birth | Unknown | — | Luxembourg | Class only | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.31 / 100 000 | Luxembourg | Value and class | Validated | 18442953[PMID] |
| Prevalence at birth | Unknown | — | Malta | Class only | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.79 / 100 000 | Malta | Value and class | Validated | 18442953[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.58 / 100 000 | Netherlands | Value and class | Validated | 30146269[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.5181 / 100 000 | Netherlands | Value and class | Validated | 30146269[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 11.5474 / 100 000 | Norway | Value and class | Validated | 26795017[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.629 / 100 000 | Norway | Value and class | Validated | 26795017[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 17.4881 / 100 000 | Poland | Value and class | Validated | 22892530[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 10.0394 / 100 000 | Poland | Value and class | Validated | 22892530[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.549 / 100 000 | Portugal | Value and class | Validated | 33072945[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.204 / 100 000 | Portugal | Value and class | Validated | 33072945[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 48.6381 / 100 000 | Romania | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.06 / 100 000 | Romania | Value and class | Validated | 18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 9.7119 / 100 000 | Russian Federation | Value and class | Validated | ECFS Neonatal Screening Working Group[OTHER] |
| Point prevalence | 1-9 / 100 000 | 5.5753 / 100 000 | Russian Federation | Value and class | Validated | ECFS Neonatal Screening Working Group[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 15.38 / 100 000 | Slovakia | Value and class | Validated | 28544683[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.8292 / 100 000 | Slovakia | Value and class | Validated | 28544683[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 33.3333 / 100 000 | Slovenia | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.28 / 100 000 | Slovenia | Value and class | Validated | 18442953[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.5048 / 100 000 | Spain | Value and class | Validated | 25680858[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.4749 / 100 000 | Spain | Value and class | Validated | 25680858[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 17.9285 / 100 000 | Sweden | Value and class | Validated | 12243313[PMID]_18442953[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.2922 / 100 000 | Sweden | Value and class | Validated | 12243313[PMID]_18442953[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 41.9991 / 100 000 | United Kingdom | Value and class | Validated | 18442953[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.7 / 100 000 | United Kingdom | Value and class | Validated | 18442953[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
35 annotations · validated 2022-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012873 | Absent vas deferens | |
| HP:0006536 | Airway obstruction | |
| HP:0002110 | Bronchiectasis | |
| HP:0012236 | Elevated sweat chloride | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0002024 | Malabsorption | |
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0003251 | Male infertility | |
| Occasional (29-5%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0000739 | Anxiety | |
| HP:0002099 | Asthma | |
| HP:0045082 | Decreased body mass index | |
| HP:0000716 | Depression | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0004401 | Meconium ileus | |
| HP:0000938 | Osteopenia | |
| HP:0002035 | Rectal prolapse | |
| HP:0002724 | Recurrent Aspergillus infections | |
| HP:0005376 | Recurrent Haemophilus influenzae infections | |
| HP:0002726 | Recurrent Staphylococcus aureus infections | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0032342 | Reduced forced expiratory volume in one second | |
| HP:0000246 | Sinusitis | |
| HP:0002570 | Steatorrhea | |
| Very rare (<4-1%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0000365 | Hearing impairment | |
| HP:0002105 | Hemoptysis | |
| HP:0100582 | Nasal polyposis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0032261 | Nontuberculous mycobacterial pulmonary infection | |
| HP:0000939 | Osteoporosis | |
| HP:0002107 | Pneumothorax | |
| HP:0002842 | Recurrent Burkholderia cepacia infections | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30223583[PMID]_25246663[PMID]_26826884[PMID]_33526571[PMID]_25826586[PMID]_ECFSPRAnnualReport2020[OTHER]_UKCysticFibrosisRegistry2021AnnualDataReport[OTHER]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/586
- This record as JSON: /data/d/586.json