Formiminoglutamic Aciduria

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Formiminoglutamic Aciduria

FTCD

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Clinical Features

Top most frequent phenotypes and symptoms related to Formiminoglutamic Aciduria

Intellectual disability
Global developmental delay
Growth delay
Anemia
Aciduria
Aminoaciduria
Megaloblastic anemia
Folate deficiency
Megaloblastic bone marrow
Hypersegmentation of neutrophil nuclei

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Formiminoglutamic Aciduria Is also known as formiminotransferase cyclodeaminase deficiency, formiminoglutamic aciduria, figlu-uria, ftcd deficiency, formiminotransferase deficiency, glutamate formiminotransferase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Formiminoglutamic Aciduria extracted from public data.

Formiminoglutamic Aciduria Experts map

Current Researchs and researchers

AMSTERDAM — Pr H.J. [Henk] BLOM
Coordinator of research network
- Institution/s:
  — Amsterdam UMC, locatie VUmc
- Research area/topic::
  E-HOD - European network and registry for homocystinurias and methylation defects

Formiminoglutamic Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glutamate formiminotransferase deficiency. By Centogene AG - the Rare Disease Company (Germany). FTCD Specificity 100 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL (Spain). RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...) View the complete list with 278 more genes Panel complete gene list RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD, SPG11, SPG7, SUCLA2, SUCLG1, SURF1, SYN1, TAT, TFR2, TH, THRB, TMPRSS3, ACOX1, CD40LG, TNNT1, TPO, TRDN, TSFM, TTPA, TUFM, TULP1, TYR, TYRP1, UGT1A1, USH1C, USH2A, CLRN1, USP9X, FTSJ1, DUOX2, MCOLN1, CDH23, WNT10A, SLC25A20, NLGN4X, NPC2, PCDH15, CAPN3, CASK, CASQ2, LRPPRC, PANK2, GDAP1, STRC, USH1G, WHRN, SLC4A11, SLC45A2, BSND, TMC1, MCEE, HAX1, TRIOBP, SLC39A4, BRWD3, FKRP, ARX, SPART, ADA, LDLRAP1, RAX, CFTR, THOC2, P3H1, MMAB, POMT2, EVC2, RDH12, GPR143, CLCN1, POLR1C, UPF3B, DHDDS, PHF8, TPP1, CLN3, CLN5, ZFYVE26, CLN6, CLN8, CNGA1, CNGB1, CNGB3, EYS, AHI1, CERKL, COL4A4, COL7A1, LMBRD1, CPT1A, ETHE1, CPT2, CRB1, CTH, TMEM216, HOGA1, CTNS, MMADHC, CTSD, ARL13B, CUL4B, ADK, CYP17A1, CYP21A2, CYP27A1, BBS10, HGSNAT, TPRN, DBT, DCX, ACSF3, SLC6A19, TMEM67, MFSD8, DHCR7, DLD, CEP290, IQSEC2, DMD, SH3TC2, DNAH5, GNPTAB, SLC46A1, TMIE, HUWE1, DYSF, AGA, AGL, DUOXA2, AGPS, ABCA4, AGXT, AHCY, ETFA, ETFB, ETFDH, F11, F2, F5, F8, F9, ACSL4, FAH, FANCA, FANCC, AIPL1, AIRE, FKTN, FGD1, FH, FMR1, AFF2, FXN, FTCD, G6PC, G6PD, ALDH4A1, GAA, GALC, GALE, GALK1, GALNS, GALT, ALDOB, GBA, GBE1, GCDH, ABCB11, GDI1, GJB2, GLA, GLB1, GLDC, GNMT, GNRHR, GNS, GRHPR, GRIA3, GUCY2D, AMT, HADHA, HAL, HBA1, HBB, HEXA, HEXB, HJV, HGD, HLCS, HMGCL, IDH3B, IDS, IDUA, AP1S2, IL1RAPL1, IL2RG, ABCD1, IVD, JAK3, KCNJ11, AR, L1CAM, LAMB3, LAMC2, LDLR, LIPA, ARG1, ABCD4, MAN2B1, MCCC1, MCCC2, CHST6, MECP2, MKS1, ARSA, ARSB, MLYCD, MPL, MPP3, MTHFR, MTMR2, ASL, MTRR, MMUT, MVK, ASPA, ASS1, MYO7A, NAGLU, NBN, NDP, NDRG1, NEB, NPC1, NPHP1, NPHS1, ATM, NR2E3, OCRL, OPHN1, OTC, OTOF, PAH, PAK3, PAX8, PC, PCBD1, PCCB, ATP7B, PDE6A, PDHB, SLC26A4, PEX1, PEX10, PEX6, ATRX, PEX7, PGK1, ACADM, SERPINA1, ACADS, PKHD1, PLOD1, PLP1, ACADSB, PMM2, ACADVL, POMT1, POU3F4, ACAT1, PPT1, PQBP1, PROP1, PRPS1, BBS1, BBS2, PTS, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Invitae Organic Acidemias Panel. By Invitae (United States). SLC25A1, BTD, SUCLA2, SUCLG1, TAZ, MCEE, MMAA, MMAB, L2HGDH, SERAC1, ETHE1, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, D2HGDH, DNAJC19, ETFA , (...) View the complete list with 29 more genes Panel complete gene list SLC25A1, BTD, SUCLA2, SUCLG1, TAZ, MCEE, MMAA, MMAB, L2HGDH, SERAC1, ETHE1, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, D2HGDH, DNAJC19, ETFA, ETFB, ETFDH, FBP1, FTCD, GCDH, GSS, HSD17B10, HIBCH, HLCS, HMGCL, IDH2, IVD, MCCC1, MCCC2, MLYCD, MMUT, ASPA, OPA3, OPLAH, OXCT1, PCCA, PCCB, ACAD8, AUH, ACADSB, POLG, ACAT1, BCKDHA, BCKDHB Specificity 3 % Genes 100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel. By Invitae (United States). SLC22A5, SLC25A13, SLC25A15, SMPD1, BTD, SPR, SUCLA2, SUCLG1, TAT, TAZ, SLC25A20, CBS, CD320, MCEE, NAGS, CFTR, MMAA, MMAB, SERAC1, LMBRD1 , (...) View the complete list with 69 more genes Panel complete gene list SLC22A5, SLC25A13, SLC25A15, SMPD1, BTD, SPR, SUCLA2, SUCLG1, TAT, TAZ, SLC25A20, CBS, CD320, MCEE, NAGS, CFTR, MMAA, MMAB, SERAC1, LMBRD1, CPT1A, ETHE1, CPT2, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, DNAJC19, AHCY, ETFA, ETFB, ETFDH, FAH, FTCD, G6PD, ALDH4A1, GAA, GALE, GALK1, GALT, GCDH, GCH1, GLA, GNMT, GSS, HADH, HSD17B10, HADHA, HADHB, HCFC1, HLCS, HMGCL, HPD, IDUA, ABCD1, IVD, ARG1, ABCD4, MAT1A, MCCC1, MCCC2, MLYCD, ASL, MTR, MTRR, MMUT, ASS1, OAT, OPA3, OTC, PAH, PC, PCBD1, PCCA, PCCB, ACAD8, ACADM, AUH, ACADS, ACADSB, ACADVL, ACAT1, PRODH, PTS, QDPR, BCKDHA, BCKDHB Specificity 2 % Genes 100 %
Formiminotransferase Deficiency: FTCD Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). FTCD Specificity 100 % Genes 100 %
Formiminotransferase Deficiency: FTCD Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). FTCD Specificity 100 % Genes 100 %
FTCD. By Fulgent Genetics Fulgent Genetics (United States). FTCD Specificity 100 % Genes 100 %
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY. By Genera (Brazil). FTCD Specificity 100 % Genes 100 %