| Short | Long name | Omim | Causing Synthethases |
|---|---|---|---|
| ALSP | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | AARS2 | |
| Adult-onset progressive cognitive, psychiatric, and motor decline and leukodystrophy | AARS2 | ||
| Alpers-Huttenlocher syndrome | CARS2 PARS2 FARS2 NARS2 | ||
| Anaphylaxis | KARS | ||
| Ataxia and Hypogonadism | AARS2 LARS2 | ||
| Ataxia without leukoencephalopathy | AARS2 | ||
| ARSAL | Autosomal recessive spastic ataxia with leukoencephalopathy | 611390 | MARS2 |
| Autosomal recessive spastic paraplegia | FARS2 DARS2 | ||
| Behavioural changes, neuroregression and tremors | CARS2 | ||
| CAGSSS | Cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or Leigh Syndrome | 616007 | IARS2 |
| CMT | Charcot-Marie-Tooth disease | KARS GARS | |
| Childhood-onset progressive tremor with development of polyneuropathy, ataxia, and mild cognitive and psychiatric decline | AARS2 | ||
| Childhood-onset tremor and nystagmus which preceded dystonia, chorea, ataxia, depression, and cognitive decline | AARS2 | ||
| Chronic rhinosinusitis | PARS2 | ||
| Combined oxidative phosphorylation deficiency 24 | NARS2 | ||
| Deafness | YARS2 LARS2 HARS2 | ||
| Developmental delay, dysarthria and tremor | 614946 | FARS2 | |
| Developmental delay, epilepsy, and neonatal diabetes syndrome | NARS2 | ||
| Distal spinal muscular atrophy type 5 | GARS | ||
| Dysarthria, gait disturbance, and right-side weakness | AARS2 | ||
| Early myoclonic encephalopathy | RARS2 | ||
| Early onset epileptic encephalopathies | RARS2 FARS2 PARS2 CARS2 NARS2 AARS2 | ||
| Early onset mitochondrial encephalomyopathy with epilepsy, dystonia, hyperhidrosis and severe hearing impairment | TARS2 | ||
| Early-onset cerebellar ataxia | RARS2 AARS2 | ||
| Early-onset hearing loss and leukoencephalopathy | KARS | ||
| Early-onset isolated lethal hypertrophic cardiomyopathy, hyperlactatemia, and pulmonary hypertension | VARS2 | ||
| LTBL | Early-onset leukoencephalopathy with thalamus and brain stem involvment and high lactate | 614924 | EARS2 |
| Encephalopathy | VARS2 TARS2 NARS2 | ||
| Epileptic encephalopathy | 615917 | CARS2 NARS2 VARS2 FARS2 PARS2 RARS2 | |
| Fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum | EARS2 | ||
| Fetal akinesia | EARS2 | ||
| Global developmental delay, epilepsy, and brain atrophy | PARS2 | ||
| HLASA | Hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure | LARS2 | |
| Hyperkinetic movement disorder with dystonia, chorea, and ballism | WARS2 | ||
| Hypertrophic cardiomyopathy | KARS AARS2 | ||
| HUPRA | Hyperuricemia, pulmonary hypertension and renal failure in infancy and alkalosis | 613845 | SARS2 |
| Hypotonia, global developmental delay, hearing loss, strabismus, ophthalmoplegia, dystonia | KARS | ||
| Infantil mitochondrial Alpers encephalopathy | 203700 | NARS2 PARS2 FARS2 | |
| Infantil mitochondrial cardiomyopathy | 614096 | AARS2 KARS VARS2 | |
| Infantile Parkinsonism | WARS2 | ||
| Infantile-onset developmental delay/regression and epilepsy | PARS2 NARS2 CARS2 | ||
| Infantile-onset leukoencephalopathy | WARS2 | ||
| Inherited polyneuropathy | GARS | ||
| Intellectual disability | RARS2 WARS2 KARS AARS2 FARS2 IARS2 TARS2 | ||
| Juvenile-onset refractory status epilepticus | FARS2 | ||
| Lactic acidosis, failure to thrive, and severe primary pulmonary hypertension | VARS2 | ||
| Late-onset dilated cardiomyopathy | AARS2 | ||
| LHON | Leber's hereditary optic neuropathy | YARS2 | |
| Leigh syndrome | 256000 | NARS2 IARS2 | |
| Leigh syndrome with congenital auditory neuropathy and nonsyndromic hearing loss | |||
| LKENP | Leukodystrophy | 615889 | AARS2 LARS2 KARS DARS2 |
| Leukodystrophy with ovarian failure | 612035 | AARS2 | |
| Leukoencephalopathy | KARS WARS2 EARS2 AARS2 | ||
| Leukoencephalopathy with brain stem and spinal cord calcifications | KARS | ||
| LBSL | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | 611105 | DARS2 |
| Leukoencephalopathy with cerebellar atrophy | AARS2 | ||
| Levodopa-responsive infantile-onset Parkinsonism | WARS2 | ||
| MERRF-like syndrome with severe myoclonic epilepsy, progressive spastic tetraparesis, impairment of vision, hearing and cognitive decline | 545000 | ||
| Mitochondrial disorder | FARS2 GARS VARS2 KARS AARS2 DARS2 CARS2 EARS2 PARS2 RARS2 WARS2 NARS2 | ||
| Mitochondrial encephalopathy | WARS2 VARS2 TARS2 | ||
| Mitochondrial encephalopathy | WARS2 | ||
| MELAS | Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes | VARS2 | |
| Multi-system developmental syndrome | GARS | ||
| Multiple mitochondrial respiratory chain complex deficiencies | EARS2 YARS2 VARS2 GARS TARS2 NARS2 FARS2 | ||
| Multisystem fatal infantile disease | EARS2 | ||
| MERRF | Myoclonus epilepsy with ragged red fibers | 545000 | CARS2 |
| MLASA | Myopathy, lactic acidosis and sideroblastic anemia | 613561 | YARS2 |
| NEMLAS | Neurodevelopmental disorder, with abnormal movements and lactic acidosis, with or without seizures | WARS2 | |
| Non-Immune hydrops fetalis | AARS2 | ||
| Nonsyndromic hearing loss | NARS2 KARS LARS2 | ||
| PCH6 with cardiomyopathy, hydrops, and pulmonary hypoplasia | 611523 | RARS2 | |
| Pediatric cataract | IARS2 | ||
| PS | Perrault syndrome | 233400 | HARS2 LARS2 |
| Perrault syndrome type 2 | LARS2 | ||
| PRLTS4 | Perrault syndrome, with premature ovarian failure and hearing loss | 615300 | LARS2 HARS2 |
| PCH6 | Pontocerebellar hypoplasia type 6 | 611523 | RARS2 |
| Predominant generalized Dystonia | WARS2 | ||
| Premature ovarian insufficiency | AARS2 LARS2 HARS2 | ||
| Primary pulmonary hypoplasia | AARS2 | ||
| Progressive and multisystem disease | KARS | ||
| Progressive spastic paresis | SARS2 | ||
| Progressive spastic paresis | RARS2 | ||
| Retinopathy and optic atrophy | AARS2 VARS2 | ||
| Reversible mitochondrial myopathy | LARS2 | ||
| Seizures, myopathy and ophtalmological findings | AARS2 | ||
| Sensorineural deafness, developmental delay, and lactic acidosis | KARS NARS2 | ||
| Sensorineural hearing loss | 616430 | MARS2 HARS2 KARS | |
| Severe developmental delay, sensoneurinal deafness, acute disseminated encephalomyelitis, hypogammaglobulinemia and recurrent infections | KARS | ||
| Severe early-onset cardioencephalomyopathy associated with a combined OXPHOS defect in muscle | VARS2 | ||
| Severe early-onset portal hypertension | KARS | ||
| Severe hepatopathy and neurological deterioration | WARS2 | ||
| Severe infantile visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter | KARS | ||
| Severe lactic acidosis, hypertrophic cardiomyopathy, epilepsy | VARS2 | ||
| Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea | CARS2 | ||
| Severe neurological and neurosensory disease with optic neuropathy | KARS | ||
| Severe sideroblastic anemia | IARS2 SARS2 | ||
| Sporadic frontotemporal dementia | AARS2 | ||
| Tremor, downbeat nystagmus, and primary amenorrhea | AARS2 | ||
| Type 1 diabetes mellitus | NARS2 | ||
| Uterus infantilis | AARS2 |