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
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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

SOURCES: ORPHANET MESH OMIM


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

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

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

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

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

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

FTCD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FTCD gene.

More info about this panel

GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY Panel

Brazil.

By Genera

This panel specifically test the FTCD gene.

More info about this panel


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