ODCs

Click node...

1 OMIM reference -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Juvenile primary lateral sclerosis

Congenital bilateral absence of vas deferens

ALS2	(UniProt - OMIM)		CFTR	(UniProt - OMIM)
ERLIN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ERLIN2	(0.63)	CFTR

Citations in the biomedical literature:

Juvenile primary lateral sclerosis		Congenital bilateral absence of vas deferens
	Synonym(s): - JPLS - Juvenile PLS		Synonym(s): - Congenital bilateral agenesis of vas deferens - Congenital bilateral aplasia of vas deferens

	Classification (Orphanet): - Rare genetic disease - 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: <1 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C536416		External references: 1 OMIM reference - 1 MeSH reference: C535984

Juvenile primary lateral sclerosis
	Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Muscle weakness / flaccidity - Pseudobulbar signs / spasmodic laugh and cry - Pyramidal syndrome Frequent - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Bladder and ureter anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Sensitive trouble / deficit
Congenital bilateral absence of vas deferens
(no data available)