ORPHA:247691
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Synonyms: RVCL · RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | RVCL · RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy |
| fr | Vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques | RVCL · RVCL-S · Vasculopathie rétinienne avec leucoencéphalopathie cérébrale |
| de | Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen | RVCL · RVCL-S · Retinale Vaskulopathie und zerebrale Leukoenzephalopathie |
| es | Vasculopatía retiniana con leucoencefalopatía cerebral y manifestaciones sistémicas | RVCL · RVCL-S · Vasculopatía retiniana y leucoencefalopatía cerebral |
| it | Vasculopatia retinica e leucodistrofia cerebrale | RVCL |
| nl | Retinale vasculopathie met cerebrale leuko-encefalopathie en systemische manifestaties | RVCL · RVCL-S · Retinale vasculopathie en cerebrale leuko-encefalopathie |
| pt | Vasculopatia retiniana e leucodistriofia cerebral | |
| pl | Waskulopatia siatkówki i leukoencefalopatia mózgu | RVCL |
| cs | Retinální vaskulopatie a cerebrální leukodystrofie | RVCL |
| uk | Васкулопатія сітківки з церебральною лейкоенцефалопатією та системними проявами | Васкулопатія сітківки та церебральна лейкоенцефалопатія · RVCL · RVCL-S |
| zh | 视网膜血管病变伴脑白质营养不良和全身表现 | 视网膜血管病变伴脑白质病变 |
| tr | Serebral lökoensefalopati ve sistemik belirtiler ile seyreden retinal vaskülopati | RVCL · RVCL-S · Retinal vaskülopati ve serebral lökoensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192315 | E | validated | |
| ICD-10 | I77.8 | NTBT | attributed | validated |
| ICD-11 | 9B78.0 | E | specific | validated |
| MONDO | 0008641 | E | validated | |
| MeSH | C566007 | E | validated | |
| UMLS | C1860518 | E | validated | |
| GARD | 1217 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3421Cerebroretinal vasculopathy moved to · inactive
- ORPHA:63261HERNS syndrome moved to · inactive
- ORPHA:71291Hereditary vascular retinopathy moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TREX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12269 | ENSG00000213689 | 606609 | 3p21.31 | three prime repair exonuclease 1 | 17660820[PMID]_18583934[PMID]_20876473[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
50 annotations · validated 2020-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0030880 | Raynaud phenomenon | |
| Frequent (79-30%) | ||
| HP:0006707 | Abnormality of the hepatic vasculature | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0100543 | Cognitive impairment | |
| HP:0008223 | Compensated hypothyroidism | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0000096 | Glomerulosclerosis | |
| HP:0000822 | Hypertension | |
| HP:0002076 | Migraine | |
| HP:0000112 | Nephropathy | |
| HP:0011954 | Nodular regenerative hyperplasia of liver | |
| HP:0001895 | Normochromic anemia | |
| HP:0001897 | Normocytic anemia | |
| HP:0000093 | Proteinuria | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0002381 | Aphasia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002514 | Cerebral calcification | |
| HP:0000716 | Depression | |
| HP:0040328 | Focal hyperintensity of cerebral white matter on MRI | |
| HP:0040331 | Focal hypointensity of cerebral white matter on MRI | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0000501 | Glaucoma | |
| HP:0012377 | Hemianopia | |
| HP:0001269 | Hemiparesis | |
| HP:0000737 | Irritability | |
| HP:0040049 | Macular edema | |
| HP:0002354 | Memory impairment | |
| HP:0002077 | Migraine with aura | |
| HP:0002083 | Migraine without aura | |
| HP:0002090 | Pneumonia | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000709 | Psychosis | |
| HP:0031606 | Retinal cotton wool spot | |
| HP:0030666 | Retinal neovascularization | |
| HP:0100806 | Sepsis | |
| HP:0011163 | Somatosensory auras | |
| HP:0001009 | Telangiectasia | |
| HP:0001123 | Visual field defect | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0200030 | Punctate vasculitis skin lesions | |
| HP:0000988 | Skin rash | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20876473[PMID]_31536185[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247691
- This record as JSON: /data/d/247691.json