ODCs

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3 OMIM references -
4 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Juvenile amyotrophic lateral sclerosis

Insulin-resistance syndrome type A


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUS	(0.63)	INSR

Citations in the biomedical literature:

Juvenile amyotrophic lateral sclerosis		Insulin-resistance syndrome type A
	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 - Rare infertility

	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: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Juvenile amyotrophic lateral sclerosis		Insulin-resistance syndrome type A
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - 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 - Advanced bone age - Diffuse / generalised skin hyperpigmentation / melanoderma - Hirsutism / hypertrichosis / Increased body hair - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Insulin-independent / type 2 diabetes - Late puberty / hypogonadism / hypogenitalism - Subcutaneous nodules / lipomas / tumefaction / swelling - Tall stature / gigantism / growth acceleration