MRPS34 gene related symptoms and diseases

All the information presented here about the MRPS34 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MRPS34 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Constipation Very Common - Between 80% and 100% cases
Exotropia Very Common - Between 80% and 100% cases
Choreoathetosis Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MRPS34 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gliosis
  • Inability to walk
  • Lethargy
  • Irritability
  • Developmental regression
  • Muscular hypotonia of the trunk
  • Coarse facial features
  • Kyphoscoliosis

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MRPS34 gene

Here you will find a list of rare diseases related to the MRPS34. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Description

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

SOURCES: OMIM


Potential gene panels for MRPS34 gene

MRPS34 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MRPS34 gene.

More info about this panel


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