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3 OMIM references -
4 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
13 signs/symptoms
Juvenile amyotrophic lateral sclerosis
Peripheral resistance to thyroid hormones

ALS2 THRA
FUS THRB
SIGMAR1
SPG11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FUS
(0.85)
THRA



Citations in the biomedical literature:


Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11
Peripheral resistance to thyroid hormones
THRA THRB



Juvenile amyotrophic lateral sclerosis
Peripheral resistance to thyroid hormones

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
3 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Juvenile amyotrophic lateral sclerosis
Peripheral resistance to thyroid hormones

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Pyramidal syndrome

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pseudobulbar signs / spasmodic laugh and cry

Occasional
- Bladder and ureter anomalies
- Sensitive trouble / deficit


Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia