FARS2 gene related symptoms and diseases

All the information presented here about the FARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to FARS2 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Hyperreflexia	Very Common - Between 80% and 100% cases
Acidosis	Very Common - Between 80% and 100% cases
Babinski sign	Very Common - Between 80% and 100% cases
Spastic paraplegia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FARS2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Paraplegia
Global developmental delay
Generalized hypotonia
Not very common - Between 30% and 50% cases
Hypoplasia of the corpus callosum
Cerebellar atrophy
Ventriculomegaly
Cerebral atrophy
Encephalopathy

And 54 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FARS2 gene

Here you will find a list of rare diseases related to the FARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Description

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Seizures
Global developmental delay
Generalized hypotonia
Scoliosis
Ataxia

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

SOURCES: OMIM ORPHANET

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Alternate names

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Description

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment
Microcephaly

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

SOURCES: ORPHANET OMIM

Search interest in FARS2

Potential gene panels for FARS2 gene

FARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the FARS2 gene.

FARS2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FARS2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to FARS2 gene

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Alternate names

Description

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Search interest in FARS2

Potential gene panels for FARS2 gene

FARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

FARS2 Deletion/Duplication Analysis Panel

FARS2 Sequence Analysis Panel

FARS2 Sequence Analysis (Prenatal Diagnosis) Panel

Hereditary Spastic Paraplegia Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Combined Oxidative Phosphorylation Deficiency 14 via FARS2 Gene Sequencing with CNV Detection Panel

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Mental retardation - different panels Panel

Combined Respiratory Chain Defects Panel

Neurogenetic Disorders - panels Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

Combined oxidative phosphorylation deficiency type 14 Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Nuclear-Mito NGS Panel Panel

FARS2 Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

NCL and Progressive Myoclonic Epilepsy Panel Panel

Spastic Paraplegia Panel Panel

Epileptic Encephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel