Familial Alzheimer-like prion disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in <i>PRNP</i>. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial Alzheimer-like prion disease | |
| fr | Maladie à prions familiale type Alzheimer | Maladie à prions familiale Alzheimer-like |
| de | Alzheimer-ähnliche familiäre Prionkrankheit | |
| es | Enfermedad priónica familiar similar a Alzheimer | Enfermedad priónica familiar Alzheimer-like |
| it | Malattia familiare da prioni Alzheimer-simile | |
| nl | Familiale Alzheimer-achtige prionziekte | |
| pt | Doença priónica familiar, Alzheimer-like | |
| pl | Rodzinna choroba prionowa podobna do choroby Alzheimera | |
| cs | Familiární prionové onemocnění podobné Alzheimerově nemoci | |
| uk | Сімейна пріонна хвороба, схожа на хворобу Альцгеймера | |
| zh | 家族性阿尔茨海默样朊病毒病 | |
| tr | Ailesel Alzheimer-benzeri prion hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | A81.8 | NTBT | attributed | validated |
| ICD-11 | 8E02.3 | NTBT | index | validated |
| MONDO | 0017233 | E | validated | |
| UMLS | C4303482 | 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) | 21416485[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21416485[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21416485[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
12 annotations · validated 2017-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0002549 | Deficit in phonologic short-term memory | |
| HP:0000716 | Depression | |
| HP:0000712 | Emotional lability | |
| HP:0040264 | Jaw pain | |
| HP:0030223 | Perseveration | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21416485[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280397
- This record as JSON: /data/d/280397.json