Familial cerebral small vessel disease
Gene: ABCC6Comment when marking as ready: Numerous LOF variants reported for this phenotypeCreated: 1 Jul 2016, 4:20 p.m.
Comment on list classification: Tier 1 gene in BRIDGE StudyCreated: 1 Jul 2016, 4:18 p.m.
Pseudoxanthoma elasticum is an autosomal recessive connective tissue disease and is cause of young-onset cerebral small vessel disease, with patients presenting with multiple lacunar infarcts and extensive white matter hyperintensities. Some patients may also present with intracerebral haemorrhage.
Patients also have cardiovascular features such as hypertension, angina, intermittent claudication and restrictive cardiomyopathy, bleeding from the gastrointestinal tract, skin lesions (yellow papules) and visual impairment with peau d'orange or angioid streaks on the retina, neovascularisation and retinal haemorrhages.Created: 24 Jun 2016, 8:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudoxanthoma elasticum
Publications
Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800 AR; Pseudoxanthoma elasticum, forme fruste 177850 AD
Mode of inheritance for ABCC6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for ABCC6 were set to 15825558; 17964712; 697322
ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800
Mode of inheritance for ABCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum
ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
ABCC6 was created by rheatan