TFAM gene related symptoms and diseases
All the information presented here about the TFAM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TFAM gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Very Common - Between 80% and 100% cases |
| Hepatic steatosis | Very Common - Between 80% and 100% cases |
| Conjugated hyperbilirubinemia | Very Common - Between 80% and 100% cases |
| Abnormality of the coagulation cascade | Very Common - Between 80% and 100% cases |
| Hypoalbuminemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TFAM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperbilirubinemia
- Cholestasis
- Ascites
- Hepatic failure
- Failure to thrive
- Cirrhosis
- Abnormality of the liver
- Elevated hepatic transaminase
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TFAM gene
Here you will find a list of rare diseases related to the TFAM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
- Growth delay
- Failure to thrive
- Intrauterine growth retardation
- Jaundice
- Hypoglycemia
More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
SOURCES: OMIM
Search interest in TFAM
Potential gene panels for TFAM gene
Mitochondrial Depletion Panel Panel
United States.
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 panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
TFAM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TFAM gene.
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
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