PrP systemic amyloidosis
Synonyms: Chronic diarrhea with HSAN · Chronic diarrhea with hereditary sensory and autonomic neuropathy · Prion protein systemic amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PrP systemic amyloidosis | Chronic diarrhea with HSAN · Chronic diarrhea with hereditary sensory and autonomic neuropathy · Prion protein systemic amyloidosis |
| fr | Amylose systémique PrP | Amylose systémique à protéine prion · Diarrhée chronique avec HSAN · Diarrhée chronique avec NHSA · Diarrhée chronique avec neuropathie héréditaire sensitive et autonomique |
| de | PrP-Amyloidose, systemische | Chronische Diarrhoe mit HSAN · Chronische Diarrhoe mit hereditärer sensorischer und autonomer Neuropathie · Prion-Protein-Amyloidose |
| es | Amiloidosis sistémica PrP | Amiloidosis sistémica de proteína priónica · Diarrea crónica con HSAN · Diarrea crónica con NSAH · Diarrea crónica con neuropatía sensitiva autonómica hereditaria |
| it | Amiloidosi sistemica PrP | Diarrea cronica con HSAN · Diarrea cronica con neuropatia autonomica e sensoriale ereditaria |
| nl | PrP systemische amyloïdose | Chronische diarree met HSAN · Chronische diarree met erfelijke sensorische en autonome neuropathie · Prionproteïne systemische amyloïdose |
| pt | Amiloidose sistémica PrP | Amiloidose sistémica de proteína priónica · Diarreia crónica com HSAN · Diarreia crónica com neuropatia sensitiva e autonómica hereditária |
| pl | Przewlekła biegunka z dziedziczną neuropatią czuciową i autonomiczną | Przewlekła biegunka z HSAN |
| cs | PrP systémová amyloidóza | Prionovo proteinová systémová amyloidóza · Chronický průjem s HSAN · Chronický průjem s dědičnou senzorickou a autonomní neuropatií |
| uk | Системний амілоїдоз PrP | Хронічна діарея зі спадковою сенсорною та вегетативною нейропатією · Хронічна діарея з HSAN · Пріонний білковий системний амілоїдоз |
| zh | PrP系统性淀粉样变 | 慢性腹泻伴遗传性感觉和自主神经病 |
| tr | PrP sistemik amiloidoz | HSAN ile seyreden kronik diyare · Prion protein sistemik amiloidoz · Kalıtsal duyusal ve otonom nöropati ile seyreden kronik diyare |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.8 | NTBT | attributed | validated |
| MONDO | 0018339 | E | validated | |
| UMLS | C4518776 | 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 (3):
- ORPHA:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:280400Inherited human prion disease
rare genetic diseases; rare neurological diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological 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) | 24224623[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 25623792[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25623792[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/397606
- This record as JSON: /data/d/397606.json