AASS gene related symptoms and diseases
All the information presented here about the AASS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AASS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cystinuria | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Hyperlysinuria | Very Common - Between 80% and 100% cases |
| Hyperlysinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AASS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperactivity
- Delayed speech and language development
- Global developmental delay
Not very common - Between 30% and 50% cases
- Normochromic anemia
- Episodic vomiting
- Asthenia
- Poor speech
- Short attention span
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AASS gene
Here you will find a list of rare diseases related to the AASS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SACCHAROPINURIA
Alternate names
SACCHAROPINURIA Is also known as saccharopine dehydrogenase deficiency, hyperlysinemia, type ii, alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type ii
Description
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
Most common symptoms of SACCHAROPINURIA
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Delayed speech and language development
More info about SACCHAROPINURIA
HYPERLYSINEMIA
Alternate names
HYPERLYSINEMIA Is also known as hyperlysinemia type i, lysine alpha-ketoglutarate reductase deficiency, lysine:alpha-ketoglutarate reductase deficiency, l-lysine:nad-oxido-reductase deficiency, alpha-aminoadipic semialdehyde synthase deficiency, lysine intolerance
Description
Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
Most common symptoms of HYPERLYSINEMIA
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
More info about HYPERLYSINEMIA
Search interest in AASS
Potential gene panels for AASS 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.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
Hyperlysinemia type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AASS gene.
More info about this panel Germany.
Saccharopinuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AASS gene.
More info about this panel Germany.
AASS Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the AASS gene.
More info about this panel Austria.
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.
AASS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AASS gene.
More info about this panel United States.
Ectopia Lentis Panel Panel
Finland.
By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITIH4 ATP2B3 LPCAT2 POP1 CYP3A5