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Neuroferritinopathy
1 OMIM reference -
1 associated gene
22 connected diseases
17 signs/symptoms
Disease Type of connection
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
FTH1-related iron overload
Congenital high-molecular-weight kininogen deficiency
Heritable pulmonary arterial hypertension
CLOVE syndrome
Congenital glaucoma
Cowden syndrome
Hemimegalencephaly
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary nonpolyposis colon cancer
Huntington disease
Juvenile Huntington disease
Juvenile glaucoma
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Mosaic variegated aneuploidy syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Spondylometaphyseal dysplasia - cone-rod dystrophy
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Young adult-onset Parkinsonism
Synonym(s):
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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 -
1 MeSH reference: C548080
Gene symbol UniProt reference OMIM reference
FTL P02792134790
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