Fatal familial insomnia
Synonyms: FFI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal familial insomnia | FFI |
| fr | Insomnie fatale familiale | IFF |
| de | Insomnie, familiäre fatale | = en |
| es | Insomnio familiar fatal | IFF |
| it | Insonnia familiare fatale | = en |
| nl | Fatale familiale insomnie | = en |
| pt | Insónia familiar fatal | |
| pl | Śmiertelna bezsenność rodzinna | Śmiertlena bezsenność rodzinna |
| cs | Fatální familiární insomnie | = en |
| uk | Фатальне сімейне безсоння | |
| zh | 致死性家族性失眠症 | |
| tr | Letal ailesel insomnia |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600072 | E | validated | |
| ICD-10 | A81.8 | NTBT | attributed | validated |
| ICD-11 | 8E02.2 | E | specific | validated |
| MONDO | 0010808 | E | validated | |
| MeSH | D034062 | E | validated | |
| UMLS | C0206042 | E | validated | |
| GARD | 6429 | E | validated | |
| MedDRA | 10072077 | 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 (1):
- ORPHA:280400Inherited human prion disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRNP | Disease-causing germline mutation(s) in | Assessed | HGNC:9449 | ENSG00000171867 | 176640 | 20p13 | prion protein (Kanno blood group) | 20301407[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
34 annotations · validated 2024-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000726 | Dementia | |
| HP:0100785 | Insomnia | Diagnostic criterion |
| HP:0001336 | Myoclonus | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | Diagnostic criterion |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0031843 | Bradyphrenia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000712 | Emotional lability | Diagnostic criterion |
| HP:0009926 | Epiphora | |
| HP:0000738 | Hallucinations | Diagnostic criterion |
| HP:0000975 | Hyperhidrosis | Diagnostic criterion |
| HP:0000822 | Hypertension | Diagnostic criterion |
| HP:0006511 | Laryngeal stridor | Diagnostic criterion |
| HP:5200044 | Reduced attention regulation | |
| HP:5200360 | Short rem sleep | Diagnostic criterion |
| HP:0033687 | Short term memory impairment | |
| HP:0010535 | Sleep apnea | Diagnostic criterion |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001649 | Tachycardia | Diagnostic criterion |
| HP:0012660 | Thalamic hypometabolism in FDG PET | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0012689 | Abnormal pineal melatonin secretion | |
| HP:0007256 | Abnormal pyramidal sign | Diagnostic criterion |
| HP:0002019 | Constipation | |
| HP:0000651 | Diplopia | |
| HP:0001945 | Fever | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0002371 | Loss of speech | |
| HP:0001824 | Weight loss | |
| Excluded (0%) | ||
| HP:0010850 | EEG with spike-wave complexes | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29489284[PMID]_28324299[PMID]_30890351[PMID]_35501502[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466
- This record as JSON: /data/d/466.json