RNASEH1 gene related symptoms and diseases
All the information presented here about the RNASEH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNASEH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Uncommon - Between 30% and 50% cases |
| Myalgia | Uncommon - Between 30% and 50% cases |
| Progressive external ophthalmoplegia | Uncommon - Between 30% and 50% cases |
| Bundle branch block | Uncommon - Between 30% and 50% cases |
| Right bundle branch block | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RNASEH1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- External ophthalmoplegia
- Exercise intolerance
- Progressive muscle weakness
- Increased serum lactate
- Abnormal cerebellum morphology
- Postural instability
- Unsteady gait
- Ophthalmoplegia
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNASEH1 gene
Here you will find a list of rare diseases related to the RNASEH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2
Alternate names
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 Is also known as progressive external ophthalmoplegia, autosomal recessive 2
Description
Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM ).
Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2
- Ataxia
- Muscle weakness
- Pain
- Ptosis
- Cognitive impairment
More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2
SOURCES: OMIM
ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY
Alternate names
ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy
Description
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY
SOURCES: ORPHANET
Search interest in RNASEH1
Potential gene panels for RNASEH1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel
Portugal.
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panel Portugal.
Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel
Portugal.
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panel Portugal.
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 United States.
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 Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
RNASEH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNASEH1 gene.
More info about this panel United States.
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