fatty acyl-CoA reductase 1 deficiency
Findings
No curated finding names fatty acyl-CoA reductase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
Definition from the Mondo Disease Ontology (MONDO:0014510), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 20
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Juvenile cataractHPOHP:0001118
- Frequent (30% to 79% of cases)
- Progressive microcephalyHPOHP:0000253
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- Dandy-Walker malformationHPOHP:0001305
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FAR1HGNC:26222
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: fatty acyl-CoA reductase 1 deficiency
- Also called
- FAR1 deficiencyfatty acyl-CoA reductase 1 disorderfatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiencyrhizomelic chondrodysplasia punctata type 4severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiencysevere intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiencysevere intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder