cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Findings
No curated finding names cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014768), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
14 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.
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- 11 of 11 reported patients
- Lacunar strokeHPOHP:0032325
- 10 of 11 reported patients
- Status cribrosumHPOHP:0025012
- 7 of 8 reported patients
- Gait disturbanceHPOHP:0001288
- 6 of 10 reported patients
- StrokeHPOHP:0001297
- 6 of 11 reported patients
- Transient ischemic attackHPOHP:0002326
- 6 of 11 reported patients
- Cognitive impairmentHPO
Show the remaining 2
- Mental deteriorationHPOHP:0001268
- Recurrent subcortical infarctsHPOHP:0007236
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
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- Also called
- CADASIL caused by mutation in HTRA1CADASIL2HTRA1 CADASIL