Corneal abnormalities
Gene: APOA1
Homozygous mutations in APOA1 present with severe premature coronary artery disease mild corneal arcus and opacification. Therefore distinct corneal appearance and highly unlikely that the corneal changes would be the only presenting symptom.Created: 9 Mar 2017, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoalphalipoproteinemia 604091; Amyloidosis, 3 or more types 105200
Publications
Comment on publications: PMID: 20616715 "Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure."Created: 3 Mar 2017, 11:35 a.m.
Comment on publications: PMID: 22755272 patients with primary dyslipidaemia can display corneal arcus.Created: 3 Mar 2017, 11:32 a.m.
Comment on list classification: Corneal abnormalities would be likely be secondary to presenting with Familial hypercholesterolaemia, but may be an important corneal abnormality gene.Created: 22 Feb 2017, 10:26 a.m.
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Red List (Low Evidence).
Publications for APOA1 were set to 1898657; 22755272; 20616715; 19515369; 17991756;10073988
Publications for APOA1 were set to 1898657; 22755272; 20616715; 19515369;17991756
Phenotypes for APOA1 were set to Corneal clouding, autosomal recessive;Familial LCAT deficiency
Publications for APOA1 were set to 1898657; 22755272; 20616715;19515369
Publications for APOA1 were set to 1898657; 22755272; 20616715
Publications for APOA1 were set to 1898657;22755272
Phenotypes for APOA1 were set to Corneal clouding, autosomal recessive
Publications for APOA1 were set to 1898657
Mode of inheritance for APOA1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
APOA1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen