APOB gene related symptoms and diseases
All the information presented here about the APOB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to APOB gene
|Symptoms // Phenotype||% Cases|
|Developmental regression||Common - Between 50% and 80% cases|
|Visual loss||Common - Between 50% and 80% cases|
|Mitral regurgitation||Common - Between 50% and 80% cases|
|Tendon xanthomatosis||Common - Between 50% and 80% cases|
|Arthralgia||Common - Between 50% and 80% cases|
Other less frequent symptoms and clinical featuresPatients with APOB gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Abnormal pyramidal sign
- Increased LDL cholesterol concentration
- Myocardial infarction
- Gait disturbance
And 160 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to APOB gene
Here you will find a list of rare diseases related to the APOB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BEHÇET DISEASE Is also known as bd, behcet disease
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Most common symptoms of BEHÇET DISEASE
More info about BEHÇET DISEASE
ATAXIA WITH VITAMIN E DEFICIENCY
ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency, aved, ataxia with isolated vitamin e deficiency, isolated vitamin e deficiency, friedreich-like ataxia, ataxia, friedreich-like, with selective vitamin e deficiency
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Most common symptoms of ATAXIA WITH VITAMIN E DEFICIENCY
- Muscle weakness
More info about ATAXIA WITH VITAMIN E DEFICIENCY
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh
Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
- Hepatic steatosis
- Sudden cardiac death
More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA