Familial encephalopathy with neuroserpin inclusion bodies
Synonyms: FENIB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial encephalopathy with neuroserpin inclusion bodies | FENIB |
| fr | Encéphalopathie familiale à corps d'inclusion de neuroserpine | = en |
| de | Enzephalopathie mit Neuroserpin-Einschlüssen, familiäre Form | = en |
| es | Encefalopatía con cuerpos de inclusión de neuroserpina, forma familiar | = en |
| it | Encefalopatia familiare con corpi inclusi di neuroserpina | = en |
| nl | Familiale encefalopathie met neuroserpine-inclusielichamen | = en |
| pt | Encefalopatia com corpos de inclusão de neuroserpina, forma familiar | |
| pl | Rodzinna encefalopatia z ciałami wtrętowymi z neuroserpiny | = en |
| cs | Familiární encefalopatie s inkluzními tělísky neuroserpinu | = en |
| uk | Сімейна енцефалопатія з нейросерпіновими тільцями включення | = en |
| zh | 家族性脑病伴神经丝氨酸蛋白包涵体 | FENIB病 |
| tr | Nöroserpin inklüzyon cisimcikleri ile seyreden ailesel ensefalopati | FENİB |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604218 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | index | validated |
| MONDO | 0011412 | E | validated | |
| MeSH | C536841 | E | validated | |
| UMLS | C1858680 | E | validated | |
| GARD | 10037 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:250808Serpinopathy with toxic serpin polymerization
rare genetic diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SERPINI1 | ORPHA:530303Progressive dementia with neuroserpin inclusion bodies | Disease-causing germline mutation(s) in | Assessed | HGNC:8943 | ENSG00000163536 | 602445 | 3q26.1 | serpin family I member 1 | 12103288[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 18591508[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18591508[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85110
- This record as JSON: /data/d/85110.json