MRPS7 gene related symptoms and diseases

All the information presented here about the MRPS7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MRPS7 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases
Congenital sensorineural hearing impairment Very Common - Between 80% and 100% cases
Hypergonadotropic hypogonadism Very Common - Between 80% and 100% cases
Decreased liver function Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MRPS7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pancytopenia
  • Increased serum lactate
  • Hepatic steatosis
  • Lactic acidosis
  • Failure to thrive
  • Hypoglycemia
  • Hypogonadism
  • Encephalopathy

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MRPS7 gene

Here you will find a list of rare diseases related to the MRPS7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT


Alternate names

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd, syndromic sensorineural hearing loss due to coxpd

Description

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Most common symptoms of SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

SOURCES: ORPHANET OMIM


Potential gene panels for MRPS7 gene

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

MRPS7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MRPS7 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SH3GL1 ALDOB RTTN CCR4 TMPRSS5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more