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1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Neuralgic amyotrophy
Congenital bilateral absence of vas deferens

SEPT9 CFTR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Neuralgic amyotrophy
SEPT9
Congenital bilateral absence of vas deferens
CFTR



Neuralgic amyotrophy
Congenital bilateral absence of vas deferens

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

Synonym(s):
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens

Classification (Orphanet):
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 6-9 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535984

Neuralgic amyotrophy

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


Congenital bilateral absence of vas deferens

(no data available)