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1 OMIM reference -
5 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Cystic fibrosis
Neuralgic amyotrophy

CFTR SEPT9
CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
(0.63)
SEPT9



Citations in the biomedical literature:


Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1
Neuralgic amyotrophy
SEPT9



Cystic fibrosis
Neuralgic amyotrophy

Synonym(s):
- CF
- Mucoviscidosis

Synonym(s):
- Acute brachial plexus neuritis
- Brachial plexus neuritis
- Immune brachial plexus neuropathy
- Mononeuritis multiplex with brachial predilection
- Neuralgic shoulder amyotrophy
- Serum neuritis
- Winged scapula

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

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
Epidemiological data:
Class of prevalence: 6-9 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D003550
External references:
1 OMIM reference -
No MeSH references

Cystic fibrosis
Neuralgic amyotrophy

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

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Articular / joint pain / arthralgia
- Muscle weakness / flaccidity
- Neuritis / polyneuritis / multineuritis

Frequent
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Cleft lip and palate
- Elocution disorders / dysarthria / dysphonia
- Microstomia / little mouth
- Peripheral neuropathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Round face
- Short stature / dwarfism / nanism
- Sleep and vigilance disorders