Stroke
Gene: ABCA1
VBDSZB DFAZZDCreated: 17 Feb 2025, 10:48 p.m. | Last Modified: 17 Feb 2025, 10:48 p.m.
Panel Version: 1.2301
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Campomelic dysplasia with autosomal sex reversal 114290
Publications
Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants. Mono-allelic variants cause HDL deficiency.Created: 29 Aug 2020, 7:57 a.m. | Last Modified: 29 Aug 2020, 7:57 a.m.
Panel Version: 0.4006
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091
Publications
Cases have been reported with large artery atherosclerosis, cardio embolism due to cardiomyopathy, intracerebral bleeding, and bleeding tendency stroke subtypes. Also a hamster model with ischemic stroke.
Sources: LiteratureCreated: 30 Apr 2020, 8:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier disease MIM#205400
Publications
Gene: abca1 has been classified as Green List (High Evidence).
Gene: abca1 has been classified as Green List (High Evidence).
gene: ABCA1 was added gene: ABCA1 was added to Stroke. Sources: Literature Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 30356112; 22913675; 30278532; 31487778 Phenotypes for gene: ABCA1 were set to Tangier disease MIM#205400 Review for gene: ABCA1 was set to GREEN