ODCs

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3 OMIM references -
4 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Juvenile amyotrophic lateral sclerosis

Epidermolysis bullosa simplex, Ogna type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUS	(0.59)	PLEC

Citations in the biomedical literature:

Juvenile amyotrophic lateral sclerosis		Epidermolysis bullosa simplex, Ogna type
	Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease		Synonym(s): - EBS-O

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin 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: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535962

Juvenile amyotrophic lateral sclerosis		Epidermolysis bullosa simplex, Ogna type
	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 - Autosomal dominant inheritance - Bruisability - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Skin hypoplasia / aplasia / atrophy