FTCD gene related symptoms and diseases
All the information presented here about the FTCD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FTCD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Anemia | Very Common - Between 80% and 100% cases |
| Aciduria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FTCD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aminoaciduria
- Megaloblastic anemia
- Folate deficiency
- Megaloblastic bone marrow
- Hypersegmentation of neutrophil nuclei
- Positive ferric chloride test
Rare diseases associated to FTCD gene
Here you will find a list of rare diseases related to the FTCD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FORMIMINOGLUTAMIC ACIDURIA
Alternate names
FORMIMINOGLUTAMIC ACIDURIA Is also known as formiminotransferase cyclodeaminase deficiency, formiminoglutamic aciduria, figlu-uria, ftcd deficiency, formiminotransferase deficiency, glutamate formiminotransferase deficiency
Description
Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
Most common symptoms of FORMIMINOGLUTAMIC ACIDURIA
- Intellectual disability
- Global developmental delay
- Growth delay
- Anemia
- Aciduria
More info about FORMIMINOGLUTAMIC ACIDURIA
Search interest in FTCD
Potential gene panels for FTCD gene
Glutamate formiminotransferase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FTCD 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.
Invitae Organic Acidemias Panel Panel
United States.
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panel United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Formiminotransferase Deficiency: FTCD Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FTCD gene.
More info about this panel United States.
Formiminotransferase Deficiency: FTCD Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FTCD gene.
More info about this panel United States.
FTCD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FTCD gene.
More info about this panel United States.
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY Panel
Brazil.
By Genera
This panel specifically test the FTCD gene.
More info about this panel Brazil.
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