microangiopathy and leukoencephalopathy, pontine, autosomal dominant
MONDO:0032814Mondo
Findings
No curated finding names microangiopathy and leukoencephalopathy, pontine, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 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
- 18 of 18 reported patients
- Cognitive impairmentHPOHP:0100543
- 9 of 18 reported patients
- Postural instabilityHPOHP:0002172
- 6 of 15 reported patients
- DementiaHPOHP:0000726
- 1 of 18 reported patients
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.
- COL4A1HGNC:2202
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: microangiopathy and leukoencephalopathy, pontine, autosomal dominant
- Also called
- PADMALpontine autosomal dominant microangiopathy with leukoencephalopathy