HTRA1-related autosomal dominant cerebral small vessel disease
Synonyms: HTRA1-related autosomal dominant cerebral angiopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HTRA1-related autosomal dominant cerebral small vessel disease | HTRA1-related autosomal dominant cerebral angiopathy |
| fr | Maladie autosomique dominante des petites artères cérébrales associée à HTRA1 | Angiopathie cérébrale autosomique dominante associée à HTRA1 |
| de | Zerebrale Mikroangiopathie, HTRA1-abhängige, autosomal-dominante | Angiopathie, zerebrale, HTRA1-abhängige, autosomal-dominante |
| es | Enfermedad cerebral de pequeño vaso autosómica dominante asociada al gen HTRA1 | Angiopatía cerebral asociada al gen HTRA1 autosómica dominante |
| it | Malattia dei piccoli vasi cerebrali autosomica dominante correlata a HTRA1 | |
| nl | HTRA1-gerelateerde autosomaal dominante ziekte van cerebrale kleine bloedvaten | HTRA1-gerelateerde autosomaal dominante cerebrale angiopathie |
| pt | Doença dos pequenos vasos cerebrais autossómica dominante HTRA1-relacionada | Doença autossómica dominante das pequenas artérias cerebrais associada a HTRA1 |
| pl | Autosomalna dominująca choroba małych naczyń mózgu zależna od HTRA-1 | Autosomalna dominująca angiopatia mózgu zależna od HTRA-1 |
| cs | HTRA1-vázaná autozomálně dominantní nemoc malých cév mozku | HTRA1-related autosomal dominant cerebral angiopathy · HTRA1-vázaná autozomálně dominantní cerebrální angiopatie |
| uk | Аутосомно-домінантне захворювання дрібних судин головного мозку, повязане з HTRA1 | HTRA1-асоційована аутосомно-домінантна церебральна ангіопатія |
| zh | HTRA1相关常染色体显性大脑小血管疾病 | HTRA1相关常染色体显性脑血管病 |
| tr | HTRA1-ilişkili otozomal dominant serebral küçük damar hastalığı | HTRA1-ilişkili otozomal baskın serebral anjiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616779 | E | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0018832 | E | validated | |
| UMLS | C5568568 | 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:482072HTRA1-related cerebral small vessel disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HTRA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9476 | ENSG00000166033 | 602194 | 10q26.13 | HtrA serine peptidase 1 | 26063658[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 26063658[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26063658[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/482077
- This record as JSON: /data/d/482077.json