FAR1 gene related symptoms and diseases

All the information presented here about the FAR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FAR1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short nose Very Common - Between 80% and 100% cases
Spastic tetraparesis Very Common - Between 80% and 100% cases
Rhizomelia Very Common - Between 80% and 100% cases
Tetraparesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FAR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Highly arched eyebrow
  • Smooth philtrum
  • Congenital cataract
  • Neonatal hypotonia
  • Thin upper lip vermilion
  • Coarse facial features
  • Macrotia
  • Long philtrum

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FAR1 gene

Here you will find a list of rare diseases related to the FAR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Alternate names

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder, severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Description

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

Most common symptoms of SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for FAR1 gene

Peroxisomal Disorders Sequencing Panel Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Chondrodysplasia punctata and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Deletion / Duplication panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Comprehensive panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

FAR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAR1 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel


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