CTH gene related symptoms and diseases
All the information presented here about the CTH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CTH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Diabetes mellitus | Very Common - Between 80% and 100% cases |
| Aciduria | Very Common - Between 80% and 100% cases |
| Glycosuria | Very Common - Between 80% and 100% cases |
| Neuroblastoma | Very Common - Between 80% and 100% cases |
| Hyperglycinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CTH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cystinuria
- Nonketotic hyperglycinemia
- Galactosuria
- Cystathioninuria
- Hyperhistidinemia
Rare diseases associated to CTH gene
Here you will find a list of rare diseases related to the CTH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CYSTATHIONINURIA
Alternate names
CYSTATHIONINURIA Is also known as cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency, cystathionase deficiency
Description
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.
Most common symptoms of CYSTATHIONINURIA
- Diabetes mellitus
- Aciduria
- Glycosuria
- Neuroblastoma
- Hyperglycinemia
More info about CYSTATHIONINURIA
Search interest in CTH
Potential gene panels for CTH gene
Cystathioninuria via CTH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CTH gene.
More info about this panel United States.
Cystathioninuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CTH gene.
More info about this panel Germany.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panel United States.
CTH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTH gene.
More info about this panel United States.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
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