ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Infantile-onset ascending hereditary spastic paralysis

Adult-onset distal myopathy due to VCP mutation


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

Citations in the biomedical literature:

Infantile-onset ascending hereditary spastic paralysis		Adult-onset distal myopathy due to VCP mutation
	Synonym(s): - IAHSP		Synonym(s): (no synonyms)

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

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

Infantile-onset ascending hereditary spastic paralysis
	Very frequent - Autosomal recessive inheritance - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Pyramidal syndrome - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal eye movements / oculomotor disorder - Pseudobulbar signs / spasmodic laugh and cry
Adult-onset distal myopathy due to VCP mutation
(no data available)