cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
MONDO:0010829Mondo
Findings
No curated finding names cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pyramidal signHPOHP:0007256
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AphasiaHPOHP:0002381
- 1 of 1 reported patient
- Arteriosclerosis of small cerebral arteriesHPOHP:0004931
- 1 of 1 reported patient
- Bowel incontinenceHPOHP:0002607
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Carotid artery stenosisHPOHP:0100546
- 1 of 1 reported patient
- DelusionHPOHP:0000746
- 1 of 1 reported patient
- Diffuse white matter abnormalitiesHPOHP:0007204
- 6 of 6 reported patients
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Gait apraxiaHPOHP:0010521
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
Reported absent (1)
- Vascular granular osmiophilic material depositionHPOHP:0003657
Show the remaining 36
- HallucinationsHPOHP:0000738
- 1 of 1 reported patient
- Lacunar strokeHPOHP:0032325
- 1 of 1 reported patient
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- Pseudobulbar signsHPOHP:0002200
- 6 of 6 reported patients
- Transient ischemic attackHPOHP:0002326
- 1 of 1 reported patient
- Urinary incontinenceHPOHP:0000020
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HTRA1HGNC:9476
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
- Also called
- CARASILCARASIL syndromeCARASIL2cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathycerebrovascular disease with thin skin, alopecia, and disc diseaseMaeda syndrome