TDO2 gene related symptoms and diseases
All the information presented here about the TDO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TDO2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Camptodactyly of finger | Very Common - Between 80% and 100% cases |
| Tryptophanuria | Very Common - Between 80% and 100% cases |
| Hypersexuality | Very Common - Between 80% and 100% cases |
| Stuttering | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TDO2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Mood swings
- Generalized joint laxity
- Overweight
- Limited elbow extension
- Emotional lability
- Adducted thumb
- Interphalangeal joint contracture of finger
- High myopia
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TDO2 gene
Here you will find a list of rare diseases related to the TDO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERTRYPTOPHANEMIA
Alternate names
HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial
Description
Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.
Most common symptoms of HYPERTRYPTOPHANEMIA
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Strabismus
- Sensorineural hearing impairment
More info about HYPERTRYPTOPHANEMIA
Search interest in TDO2
Potential gene panels for TDO2 gene
TDO2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TDO2 gene.
More info about this panel United States.
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