ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Neuroferritinopathy

Spondylometaphyseal dysplasia - cone-rod dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FTL	(0.63)	PCYT1A

Citations in the biomedical literature:

Neuroferritinopathy		Spondylometaphyseal dysplasia - cone-rod dystrophy
	Synonym(s): - Adult basal ganglia disease - Ferritin-related neurodegeneration - Hereditary ferritinopathy		Synonym(s): - SMD-CRD

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: no data available Average age of death: no data available Type of inheritance: autosomal recessive

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

Neuroferritinopathy		Spondylometaphyseal dysplasia - cone-rod dystrophy
	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		Very frequent - Bowed diaphysis / diaphyses / long bones - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Rhizomelic micromelia - Short stature / dwarfism / nanism Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Astigmatism - Hypermetropia - Lordosis - Myopia - Nystagmus - Photophobia - Rib structure anomalies - Scoliosis - Visual loss / blindness / amblyopia Occasional - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly