ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
16 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

Juvenile primary lateral sclerosis

VCP	(UniProt - OMIM)		ALS2	(UniProt - OMIM)
			ERLIN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	ALS2

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		Juvenile primary lateral sclerosis
	Synonym(s): (no synonyms)		Synonym(s): - JPLS - Juvenile PLS

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive

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

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
Adult-onset distal myopathy due to VCP mutation
(no data available)