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.
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
Search interest in MRPS7
Potential gene panels for MRPS7 gene
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelNeurogenetic Disorders - panels Panel
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 panelMRPS7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MRPS7 gene.
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