DNA2 gene related symptoms and diseases
All the information presented here about the DNA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DNA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Sleep apnea | Uncommon - Between 30% and 50% cases |
| Facial palsy | Uncommon - Between 30% and 50% cases |
| Apnea | Uncommon - Between 30% and 50% cases |
| Hyperlordosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DNA2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ophthalmoplegia
- Muscle cramps
- Exercise intolerance
- External ophthalmoplegia
- Gowers sign
- Difficulty walking
- Generalized amyotrophy
- Exertional dyspnea
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DNA2 gene
Here you will find a list of rare diseases related to the DNA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SECKEL SYNDROME 8; SCKL8
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).
Most common symptoms of SECKEL SYNDROME 8; SCKL8
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
SOURCES: OMIM
DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME
Alternate names
DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME Is also known as mtdna deletion syndrome with limb-girdle weakness, progressive external ophthalmoplegia, autosomal dominant 6, mtdna deletion syndrome with progressive myopathy, mitochondrial dna deletion syndrome with limb-girdle weakness, mitochondrial dna deletion syndrom
Description
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.
Most common symptoms of DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME
- Muscle weakness
- Ptosis
- Skeletal muscle atrophy
- Gait disturbance
- Myopathy
Search interest in DNA2
Potential gene panels for DNA2 gene
Mitochondrial Depletion Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1
More info about this panelSeckel Syndrome Panel Panel
By Genetic Services Laboratory University of Chicago Seckel Syndrome Panel that also includes the following genes: NIN PCNT CENPJ CEP63 CEP152 DNA2 TRAIP LIG4 ATR RBBP8
More info about this panelComprehensive Primordial Dwarfism Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panelProgressive external ophthalmoplegia (NGS panel of 12 genes) Panel
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 panelProgressive external ophthalmoplegia (NGS panel of 12 genes) Panel
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 panelAutosomal Dominant Progressive External Ophthalmoplegia via DNA2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DNA2 gene.
More info about this panelMitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX
More info about this panelMitochondrial 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 panelMicrocephalic primordial dwarfism Comprehensive panel Panel
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panelMicrocephalic primordial dwarfism Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panelMicrocephalic primordial dwarfism NGS panel Panel
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panelSeckel Syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Seckel Syndrome that also includes the following genes: NIN CENPJ CDK5RAP2 CEP152 DNA2 ATRIP ATR RBBP8
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 panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelProgressive external ophthalmoplegia with mitochondrial deletions type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DNA2 gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelCongenital and Distal Myopathies Panel Panel
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panelDNA2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNA2 gene.
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