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 features

Patients with APOB gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dyspnea
  • Abnormal pyramidal sign
  • Increased LDL cholesterol concentration
  • Malabsorption
  • Hypercholesterolemia
  • Myocardial infarction
  • Ataxia
  • Gait disturbance

And 160 more phenotypes, you can get all of them using our tools for rare diseases.

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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


Alternate names

BEHÇET DISEASE Is also known as bd, behcet disease

Description

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

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


More info about BEHÇET DISEASE

SOURCES: OMIM ORPHANET MESH

ATAXIA WITH VITAMIN E DEFICIENCY


Alternate names

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

Description

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

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


More info about ATAXIA WITH VITAMIN E DEFICIENCY

SOURCES: MESH ORPHANET OMIM

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA


Alternate names

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh

Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

  • Hypertension
  • Dyspnea
  • Arthralgia
  • Hepatic steatosis
  • Sudden cardiac death


More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

SOURCES: ORPHANET




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