GAREM2 gene related symptoms and diseases

All the information presented here about the GAREM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GAREM2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Cardiac arrest Very Common - Between 80% and 100% cases
Lactic acidosis Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases
Distal sensory impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GAREM2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hepatic steatosis
  • Metabolic acidosis
  • Coma
  • Muscle cramps
  • Generalized muscle weakness
  • Sensory impairment
  • Hypotension
  • Pigmentary retinopathy

And 52 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GAREM2 gene

Here you will find a list of rare diseases related to the GAREM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


Alternate names

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Description

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

Most common symptoms of MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

SOURCES: OMIM




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