TIMM50 gene related symptoms and diseases
All the information presented here about the TIMM50 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TIMM50 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Encephalopathy | Very Common - Between 80% and 100% cases |
Delayed ability to walk | Very Common - Between 80% and 100% cases |
Abnormality of mitochondrial metabolism | Very Common - Between 80% and 100% cases |
Clonus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TIMM50 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypsarrhythmia
- Epileptic encephalopathy
- Aciduria
- Increased serum lactate
- Brain atrophy
- Abnormality of the cerebral white matter
- Absent speech
- Seizures
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TIMM50 gene
Here you will find a list of rare diseases related to the TIMM50. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3-METHYLGLUTACONIC ACIDURIA TYPE 9
Alternate names
3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, mga9
Description
MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).
Most common symptoms of 3-METHYLGLUTACONIC ACIDURIA TYPE 9
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9
Search interest in TIMM50
Potential gene panels for TIMM50 gene
TIMM50 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TIMM50 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LRSAM1 SIK1 GHR SCN1B ADK CCDC88C IMMP2L