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

SOURCES: OMIM ORPHANET


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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