ORPHA:157846
Neuroferritinopathy
Synonyms: Adult basal ganglia disease · Ferritin-related neurodegeneration · Hereditary ferritinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuroferritinopathy | Adult basal ganglia disease · Ferritin-related neurodegeneration · Hereditary ferritinopathy |
| fr | Neuroferritinopathie | Ferritinopathie héréditaire · Neurodégénérescence associée à la ferritine |
| de | Neuroferritinopathie | Basalganglien-Erkrankungen, adulte · Ferritin-abhängige Neurodegeneration · Ferritinopathie, hereditäre |
| es | Neuroferritinopatía | Enfermedad de los ganglios del adulto · Ferritinopatía hereditaria · Neurodegeneración asociada a la ferritina |
| it | Neuroferritinopatia | Ferritinopatia ereditaria · Malattia dei gangli basali a esordio nell'età adulta · Neurodegenerazione legata alla ferritina |
| nl | Neuroferritinopathie | Erfelijke ferritinopathie · Ferritine-gerelateerde neurodegeneratie · Volwassen basale gangliaziekte |
| pt | Neuroferritinopatia | |
| pl | Neuroferrytynopatia | Choroba zwojów podstawnych dorosłych · Dziedziczna neuroferrytynopatia · Neurodegeneracja związana z ferrytyną |
| cs | Neuroferitinopatie | Neurodegenerace spojená s akumulací železa · Hereditární feritinopatie · Onemocnění bazálních ganglií u dospělých |
| uk | Нейроферритинопатія | Захворювання базальних гангліїв у дорослих · Нейродегенерація, повязана з феритином · Спадкова феритинопатія |
| zh | 大脑铁沉积的神经退行性变性3型 | 铁蛋白相关神经退行性病变 |
| tr | Nöroferritinopati | Kalıtsal ferritinopati · Erişkin bazal gangliya hastalığı · Ferritin-ilişkili nörodejenerasyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606159 | E | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| ICD-11 | 8A01.1Y | NTBT | index | validated |
| MONDO | 0011638 | E | validated | |
| MeSH | C548080 | E | validated | |
| UMLS | C1853578 | E | validated | |
| GARD | 10686 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTL | Disease-causing germline mutation(s) in | Assessed | HGNC:3999 | ENSG00000087086 | 134790 | 19q13.33 | ferritin light chain | 16116125[PMID]_23447832[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 90 cases | Worldwide | Case(s) | Validated | 27022507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27022507[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2020-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0012343 | Decreased serum ferritin | |
| HP:0001332 | Dystonia | |
| HP:0012675 | Iron accumulation in brain | |
| Frequent (79-30%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0031982 | Abnormal putamen morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0002067 | Bradykinesia | |
| HP:0002072 | Chorea | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0000712 | Emotional lability | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0004373 | Focal dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0000338 | Hypomimic face | |
| HP:0004305 | Involuntary movements | |
| HP:0012678 | Iron accumulation in substantia nigra | |
| HP:0031959 | Leg dystonia | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0012690 | T2 hypointense thalamus | |
| Occasional (29-5%) | ||
| HP:0031960 | Arm dystonia | |
| HP:0000643 | Blepharospasm | |
| HP:0001348 | Brisk reflexes | |
| HP:0002340 | Caudate atrophy | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0001686 | Loss of voice | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0010530 | Palatal myoclonus | |
| HP:0001300 | Parkinsonism | |
| HP:0001621 | Weak voice | |
| HP:0002356 | Writer's cramp | |
| Very rare (<4-1%) | ||
| HP:0003487 | Babinski sign | |
| HP:0000727 | Frontal lobe dementia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0000709 | Psychosis | |
| HP:0002322 | Resting tremor | |
| HP:0007123 | Subcortical dementia | |
| HP:0025331 | Upgaze palsy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 17142829[PMID]_20301320[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157846
- This record as JSON: /data/d/157846.json