Familial isolated retinal arteriolar tortuosity
Synonyms: Familial retinal arteriolar tortuosity · Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity · Tortuosity of retinal arteries
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated retinal arteriolar tortuosity | Familial retinal arteriolar tortuosity · Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity · Tortuosity of retinal arteries |
| fr | Tortuosité artériolaire rétinienne familiale isolée | Syndrome d'hémorragie de la rétine-tortuosité vasculaire · Tortuosité artériolaire rétinienne familiale · Tortuosité des artères de la rétine · Tortuosité des artérioles rétiniennes |
| de | Familiäre isolierte Tortuosität der Netzhautarterien | Netzhautblutungen mit vaskulärer Tortuositas · Vermehrte Schlängelung der Netzhautarterien · Familiäre retinale arterioläre Tortuositas |
| es | Tortuosidad arterial retiniana familiar aislada | Hemorragia retiniana con tortuosidad vascular · Tortuosidad arteriolar retiniana · Tortuosidad arteriolar retiniana familiar · Tortuosidad de las arterias retinianas |
| it | Tortuosità familiare isolata delle arteriole retiniche | Emorragia retinica con tortuosità vascolare · Tortuosità delle arterie della retina · Tortuosità delle arteriole retiniche · Tortuosità familiare delle arteriole retiniche |
| nl | Familiale geïsoleerde retinale arteriële tortuositeit | Familiale retinale arteriële tortuositeit · Retinale arteriolaire tortuositeit · Retinale hemorragie met vasculaire tortuositeit · Tortuositeit van retinale arteriën |
| pt | Tortuosidade arteriolar da retina isolada familiar | Hemorragia retiniana com tortuosidade vascular · Tortuosidade arteriolar da retina · Tortuosidade arteriolar da retina familiar · Tortuosidade das artérias da retina |
| pl | Krętość tętnic siatkówki | Krętość tętnic siatkówki · Krętość tętnic siatkówki · Krwotok w siatkówce z krętością naczyń · Rodzinna izolowana krętość tętnic siatkówki |
| cs | Retinální arteriální tortuozita | Retinální arteriolární tortuozita · Retinální hemoragie a vaskulární tortuozita · Tortuozita retinálních arterií |
| uk | Сімейна ізольована артеріолярна звивистість сітківки | Сімейна артеріолярна звивистість сітківки · Артеріолярна звивистість сітківки · Крововилив у сітківку з звивистістю судин · Звивистість артерій сітківки |
| zh | 视网膜动脉迂曲 | 视网膜出血伴血管迂曲 |
| tr | Retinal arteriyel kıvrımlılık | Retina arteriolar kıvrımlılık · Retinal arterlerin kıvrımı · Vasküler kıvrımlı retina kanaması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180000 | E | validated | |
| ICD-10 | H35.0 | NTBT | attributed | validated |
| MONDO | 0008373 | E | validated | |
| UMLS | C5779553 | 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:477765COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | 25228067[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 12745002[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75326
- This record as JSON: /data/d/75326.json