Fatty acyl-CoA reductase 1 deficiency
Synonyms: FAR1 deficiency · PFCRD · Peroxisomal fatty acyl-CoA reductase 1 disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatty acyl-CoA reductase 1 deficiency | FAR1 deficiency · PFCRD · Peroxisomal fatty acyl-CoA reductase 1 disorder |
| fr | Déficit en acyl-CoA réductase 1 | Déficit en FAR1 · Maladie peroxysomale par déficit en acyl-CoA réductase 1 |
| de | Fettsäure Acyl-CoA-Reduktase 1-Mangel | FAR1-Defizienz · FAR1-Mangel · PFCRD · Peroxisomale Fettsäure Acyl-CoA-Reduktase 1-Krankheit |
| es | Deficiencia de la Acil-CoA reductasa 1 de ácidos grasos | Deficiencia del gen FAR1 · PFCRD · Trastorno de acil-CoA reductasa 1 de ácidos grasos peroxisomal |
| it | Deficit di acil-CoA reduttasi 1 grassa | Deficit di FAR1 · Malattia perossisomiale da deficit di acil-CoA reduttasi 1 grassa · PFCRD · Sindrome disabilità cognitiva grave-epilessia-cataratta, da deficit di FAR1 · Sindrome disabilità cognitiva grave-epilessia-cataratta, da deficit perossisomiale |
| nl | Deficiëntie van vetzuur-acyl-CoA-reductase 1 | FAR1-deficiëntie · PFCRD · Stoornis van peroxisomaal vetzuur-acyl-CoA-reductase 1 |
| pt | Deficiência de acil-CoA redutase 1 dos ácidos gordos | Deficiência FAR-1 |
| pl | Niedobór reduktazy 1 acetylo-CoA kwasów tłuszczowych | Zespół ciężkiej niepełnosprawności intelektualnej, padaczki i zaćmy spowodowany niedoborem FAR1 · Zespół ciężkiej niepełnosprawności intelektualnej, padaczki i zaćmy spowodowany zaburzeniami peroksysomalnymi |
| cs | Syndrom zahrnující těžkou mentální retardaci, epilepsii a kataraktu, způsobený deficitem acyl-CoA reduktázy 1 mastných kyselin | Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený deficitem FAR1 · Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený peroxisomální poruchou |
| uk | Дефіцит жирної ацил-КоА-редуктази 1 | Дефіцит FAR1 · Порушення пероксисомної жирної ацил-КоА-редуктази 1 · PFCRD |
| zh | 脂酰基辅酶A还原酶1缺乏症 | FAR1缺乏 |
| tr | Yağlı açil-CoA redüktaz 1 eksikliği | FAR1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616154 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C57.Y | NTBT | attributed | validated |
| MONDO | 0014510 | E | validated | |
| UMLS | C4015344 | 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 (5):
- ORPHA:3276Disorder of plasmalogens biosynthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225686Peroxisomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26222 | ENSG00000197601 | 616107 | 11p15.3 | fatty acyl-CoA reductase 1 | 25439727[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25439727[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25439727[PMID] |
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
22 annotations · validated 2019-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001118 | Juvenile cataract | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001285 | Spastic tetraparesis | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003698 | Difficulty standing | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0002540 | Inability to walk | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0000508 | Ptosis | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
Annotation source: 25439727[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438178
- This record as JSON: /data/d/438178.json