Formiminoglutamic aciduria
Synonyms: FTCD deficiency · Formiminotransferase cyclodeaminase deficiency · Glutamate formiminotransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Formiminoglutamic aciduria | FTCD deficiency · Formiminotransferase cyclodeaminase deficiency · Glutamate formiminotransferase deficiency |
| fr | Acidurie formiminoglutamique | Déficit en FTCD · Déficit en formiminotransférase cyclodésaminase · Déficit en glutamate formiminotransférase |
| de | Formiminoglutaminsäure-Azidurie | FTCD-Mangel · Formimidoyltransferase-Cyclodeaminase-Mangel · Formiminoglutaminsäure-Krankheit · Glutamat-Formiminotransferase-Mangel |
| es | Aciduria formiminoglutámica | Deficiencia de FTCD · Deficiencia de formiminotransferasa ciclodeaminasa · Deficiencia de glutamato formiminotransferasa |
| it | Aciduria formiminoglutamica | Deficit di FTCD · Deficit di formiminotransferasi ciclodeaminasi · Deficit di glutammato formiminotransferasi |
| nl | Formiminoglutaminezuuracidurie | FTCD-deficiëntie · Formiminotransferase cyclodeaminasedeficiëntie · Glutamaat formiminotransferasedeficiëntie |
| pt | Acidúria formiminoglutâmica | Deficiência de glutamato formiminotransferase |
| pl | Kwasica formiminoglutaminowa | Glutamate formiminotransferase deficiency · Niedobór cyklodeaminazy formiminotransferazy · Niedobór FTCD |
| cs | Formiminoglutamová acidurie | Deficit FTCD · Deficit formiminotransferáza-cyklodeaminázy · Deficit glutamát formimidoyltransferázy |
| uk | Форміноглутамінова ацидурія | Дефіцит формімінотрансферази циклоамінотрансферази · Дефіцит FTCD · Дефіцит глутаматформимінотрансферази |
| zh | 亚胺基甲基谷氨酸尿症 | 亚胺甲基转移环脱氨酶缺乏症 |
| tr | Formiminoglutamik asidüri | FTCD eksikliği · Glutamat formiminotransferaz eksikliği · Formiminotransferaz siklodeaminaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229100 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 3A02.Y | NTBT | index | validated |
| MONDO | 0009240 | E | validated | |
| MeSH | C537425 | E | validated | |
| UMLS | C0268609 | E | validated | |
| GARD | 9279 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98408Constitutional megaloblastic anemia due to folate metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:285657Disorder of folate metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTCD | Disease-causing germline mutation(s) in | Assessed | HGNC:3974 | ENSG00000160282 | 606806 | 21q22.3 | formimidoyltransferase cyclodeaminase | 12815595[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2021-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010904 | Abnormal circulating histidine concentration | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0012335 | Abnormality of folate metabolism | |
| Frequent (79-30%) | ||
| HP:0500170 | Abnormal concentration of acylcarnitine in the urine | |
| HP:0032164 | Increased blood folate concentration | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0012758 | Neurodevelopmental delay | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000717 | Autism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29178637[PMID]_30740726[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51208
- This record as JSON: /data/d/51208.json