ORPHA:36383
COL4A1/2-related familial vascular leukoencephalopathy
Synonyms: COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome · COL4A1/COL4A2-related familial vascular leukoencephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COL4A1/2-related familial vascular leukoencephalopathy | COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome · COL4A1/COL4A2-related familial vascular leukoencephalopathy |
| fr | Leucoencéphalopathie vasculaire familiale associée à COL4A1/2 | Anomalie des petits vaisseaux du cerveau avec hémorragie associée à COL4A · Leucoencéphalopathie vasculaire familiale associée à COL4A1/COL4A2 · Syndrome autosomique dominant de tortuosité des artérioles rétiniennes-hémiparésie infantile-leucoencéphalopathie associé à COL4A |
| de | Leukenzephalopathie, familiäre vaskuläre, COL4A1/2-assoziierte | COL4A-assoziierte zerebrale Mikroangiopathie mit Hämorrhagie · COL4A-assoziiertes Syndrom der gewundenen Netzhautarteriolen mit infantiler Hemiparese und Leukoenzephalopathie |
| es | Leucoencefalopatía vascular familiar asociada a COL4A1/2 | Enfermedad cerebral de pequeños vasos con hemorragia asociada a COL4A · Leucoencefalopatía vascular familiar asociada a COL4A1/COL4A2 · Síndrome de tortuosidad de las arterias retinianas-hemiparálisis infantil-leucoencefalopatía autosómica dominante asociado a COL4A |
| it | Leucoencefalopatia vascolare familiare correlata a COL4A1 | Tortuosità delle arteriole retiniche - emiparesi infantile - leucoencefalopatia autosomica dominante |
| nl | COL4A1/2-gerelateerde familiale vasculaire leuko-encefalopathie | COL4A-gerelateerde kleine bloedvatenziekte van hersenen met hemorragie · COL4A-gerelateerde retinale arteriolaire tortuositeit - infantiele hemiparese - autosomaal dominante leuko-encefalopathie-syndroom · COL4A1/COL4A2-gerelateerde familiale vasculaire leuko-encefalopathie |
| pt | Leucoencefalopatia vascular familiar COL4A1/2-relacionada | Doença de pequenos vasos cerebrais COL4A-relacionada com hemorragia · Leucoencefalopatia vascular familiar COL4A1/COL4A2-relacionada · Síndrome de tortuosidade arteriolar retiniana-hemiparesia infantil-leucoencefalopatia autossómica dominante COL4A-relacionada |
| pl | Rodzinna leukoencefalopatia naczyniowa zależna od COL4A1 | Choroba małych naczyń mózgu z krwawieniem zależna od COL4A1 · Zespół krętych tętnic siatkówki, noworodkowego porażenia połowiczego i autosomalnnej dominującej leukoencefalopati zależny od COL4A1 |
| cs | Familiární vaskulární leukoencefalopatie | Onemocnění malých mozkových cév s krvácením · Syndrom zahrnující retinální arteriolární tortuositu, infantilní hemiparézu a autozomálně dominantní leukoencefalopatii |
| uk | Сімейна судинна лейкоенцефалопатія, повязана з COL4A1/2 | COL4A1-залежне захворювання дрібних судин головного мозку з крововиливами · COL4A1-повязаний синдром артеріолярної звивистості сітківки - дитячий геміпарез - аутосомно-домінантна лейкоенцефалопатія |
| zh | COL4-A1相关家族性血管性白质脑病 | COL4A1相关性脑小血管疾病伴出血 |
| tr | COL4A1- -ilişkili ailesel vasküler lökoensefalopati | COL4A1-ilişkili retinal arter tortuozite-infantil hemiparezi-otozomal dominant lökoensefalopati sendromu · COL4A1-ilişkili kanama ile seyreden beyin küçük damar hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175780 | NTBT | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0008289 | E | validated | |
| MONDO | 8289 | E | validated | |
| UMLS | C4755307 | 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 (1):
- ORPHA:477765COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 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 | 23065703[PMID] |
| COL4A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2203 | ENSG00000134871 | 120090 | 13q34 | collagen type IV alpha 2 chain | 24390199[PMID]_36324412[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36383
- This record as JSON: /data/d/36383.json