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Neuroferritinopathy

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital glaucoma

4 OMIM references -
3 associated genes
No signs/symptoms info

Neuroferritinopathy

Congenital glaucoma

FTL	(UniProt - OMIM)		CYP1B1	(UniProt - OMIM)
			LTBP2	(UniProt - OMIM)
			MYOC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FTL	(0.63)	MYOC

Citations in the biomedical literature:

Neuroferritinopathy		Congenital glaucoma
	Synonym(s): - Adult basal ganglia disease - Ferritin-related neurodegeneration - Hereditary ferritinopathy		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: adulthood Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C548080		External references: 4 OMIM references - No MeSH references

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
Congenital glaucoma
(no data available)