Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Juvenile primary lateral sclerosis
Male infertility with normal virilization due to meiosis defect

ALS2 CFTR
ERLIN2 SOHLH1
SYCP3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Juvenile primary lateral sclerosis
ALS2 ERLIN2
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Juvenile primary lateral sclerosis
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- JPLS
- Juvenile PLS

Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536416
External references:
4 OMIM references -
No MeSH references

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


Male infertility with normal virilization due to meiosis defect

(no data available)