SOD2 gene related symptoms and diseases
All the information presented here about the SOD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOD2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Respiratory distress | Common - Between 50% and 80% cases |
| Psychomotor deterioration | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Jaundice | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SOD2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Osteoporosis
- Kyphosis
- Nephropathy
- Respiratory insufficiency
- Hepatomegaly
- Motor delay
- Anemia
- Failure to thrive
And 307 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOD2 gene
Here you will find a list of rare diseases related to the SOD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FARBER DISEASE
Alternate names
FARBER DISEASE Is also known as acid ceramidase deficiency, ac deficiency, farber lipogranulomatosis, ceramidase deficiency, farber disease, n-laurylsphingosine deacylase deficiency
Description
Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
Most common symptoms of FARBER DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Nystagmus
- Failure to thrive
More info about FARBER DISEASE
MELAS
Alternate names
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Description
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
Most common symptoms of MELAS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MELAS
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6
Alternate names
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6 Is also known as nephropathy, diabetic, susceptibility to
More info about MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6
SOURCES: OMIM
Search interest in SOD2
Potential gene panels for SOD2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Pharmacogenetic panel Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19
More info about this panel Germany.
SOD2 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SOD2 gene.
More info about this panel Germany.
SOD2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOD2 gene.
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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