ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Neuroferritinopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.49)	FTL

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Neuroferritinopathy
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Adult basal ganglia disease - Ferritin-related neurodegeneration - Hereditary ferritinopathy

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C548080

Neuroferritinopathy
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Chorea / athetosis / choreoathetosis / choreic syndrome - Dystonia / torticollis / writer's cramp / blepharospasms - Hypertonia / spasticity / rigidity / stiffness Frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Motor deficit / trouble Occasional - Alexia / agraphia / writing / reading troubles - Constipation - Elocution disorders / dysarthria / dysphonia - Hypotension - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Tremor
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)