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Cystic fibrosis
1 OMIM reference -
5 associated genes
219 connected diseases
9 signs/symptoms
Disease Type of connection
Idiopathic bronchiectasis
Congenital bilateral absence of vas deferens
Hereditary chronic pancreatitis
Male infertility with normal virilization due to meiosis defect
Camurati-Engelmann disease
Familial thoracic aortic aneurysm and aortic dissection
X-linked non-syndromic intellectual deficit
Generalized pseudohypoaldosteronism type 1
Hereditary nonpolyposis colon cancer
Amyotrophic lateral sclerosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Loeys-Dietz syndrome type 1
Familial cerebral saccular aneurysm
Hereditary hemorrhagic telangiectasia
Liddle syndrome
Early-onset autosomal dominant Alzheimer disease
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Autosomal dominant Emery-Dreifuss muscular dystrophy
Pulverulent cataract
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Left ventricular noncompaction
Nuclear cataract
Familial isolated dilated cardiomyopathy
Limited cutaneous systemic sclerosis
Early infantile epileptic encephalopathy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial hemophagocytic lymphohistiocytosis
Multiple keratoacanthoma, Ferguson-Smith type
CEDNIK syndrome
Marfan syndrome type 2
Hereditary hyperekplexia
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Heritable pulmonary arterial hypertension
Miller-Dieker syndrome
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Congenital stromal corneal dystrophy
Infantile dystonia-parkinsonism
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Autosomal dominant spastic ataxia 1
Adult-onset distal myopathy due to VCP mutation
Angelman syndrome
Chronic myeloid leukemia
Distal 22q11.2 microdeletion syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spastic paraplegia - Paget disease of bone
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
CLN4B disease
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Cerebellar ataxia - hypogonadism
Autosomal recessive distal renal tubular acidosis with deafness
Peters anomaly
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Wilson disease
Acrokeratosis verruciformis of Hopf
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant hypocalcemia
Autosomal dominant spastic paraplegia type 13
CLN11 disease
Catecholaminergic polymorphic ventricular tachycardia
Darier disease
Encephalopathy due to prosaposin deficiency
Extraskeletal myxoid chondrosarcoma
Familial gastric cancer
Familial hypocalciuric hypercalcemia type 2
Gastric linitis plastica
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary sensory and autonomic neuropathy type 1
Infantile Krabbe disease
Intestinal epithelial dysplasia
Kostmann syndrome
Late-onset autosomal recessive medullary cystic kidney disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Papillary or follicular thyroid carcinoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Primary CD59 deficiency
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spastic paraplegia-optic atrophy-neuropathy syndrome
Unverricht-Lundborg disease
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
Huntington disease
Juvenile Huntington disease
Metaphyseal anadysplasia
APC-related attenuated familial adenomatous polyposis
Annular epidermolytic ichthyosis
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive spastic paraplegia type 18
Baraitser-Winter syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
Boomerang dysplasia
Brody myopathy
Cap myopathy
Carpenter syndrome
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Cobblestone lissencephaly without muscular or ocular involvement
Congenital analbuminemia
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy due to LMNA mutation
Congenital reticular ichthyosiform erythroderma
Cornelia de Lange syndrome
Desmoid tumor
Developmental malformations - deafness - dystonia
Diffuse palmoplantar keratoderma with painful fissures
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
FG syndrome type 1
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial afibrinogenemia
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial renal amyloidosis due to Apolipoprotein AII variant
Focal palmoplantar keratoderma with joint keratoses
Gardner syndrome
Heart-hand syndrome, Slovenian type
Hereditary sensory and autonomic neuropathy type 2
Hutchinson-Gilford progeria syndrome
Hyperlipidemia type 3
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Juvenile amyotrophic lateral sclerosis
Juvenile primary lateral sclerosis
Keratosis palmoplantaris striata
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Lipoprotein glomerulopathy
Mandibuloacral dysplasia with type A lipodystrophy
Neuralgic amyotrophy
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Pachyonychia congenita
Primary biliary cirrhosis
Progeria-associated arthropathy
Pseudohypoaldosteronism type 2C
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Sea-blue histiocytosis
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Spinocerebellar ataxia type 12
Spondylocarpotarsal synostosis
Turcot syndrome with polyposis
Williams syndrome
Wolfram syndrome
X-linked intellectual deficit with marfanoid habitus
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
Nance-Horan syndrome
Romano-Ward syndrome
Total congenital cataract
Griscelli disease type 2
20p12.3 microdeletion syndrome
Acromegaloid facial appearance syndrome
Aldosterone-producing adenoma with seizures and neurological abnormalities
Aneurysm - osteoarthritis syndrome
Brachydactyly type A2
Christianson syndrome
Cone rod dystrophy
Diffuse cutaneous systemic sclerosis
Familial atrial fibrillation
Hypertrichotic osteochondrodysplasia, Cantu type
Sinoatrial node dysfunction and deafness
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
- CF
- Mucoviscidosis

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D003550

Gene symbol UniProt reference OMIM reference
CFTR P13569602421
DCTN4 Q9UJW0614758
STX1A Q16623186590
TGFB1 P01137190180
Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

- Hepatomegaly / liver enlargement (excluding storage disease)