3.1.d
Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
- tRNA splicing endonuclease subunit 2 deficiency (Pontocerebellar hypoplasia type 2B)
- tRNA splicing endonuclease subunit 15 deficiency (Pontocerebellar hypoplasia type 2F)
- tRNA splicing endonuclease subunit 34 deficiency (Pontocerebellar hypoplasia type 2C)
- tRNA splicing endonuclease subunit 54 deficiency (Pontocerebellar hypoplasia types 2A, 4 and 5)
- CLP1 deficiency Pontocerebellar hypoplasia type 10
- tRNA methyltransferase 10A deficiency (Microcephaly, short stature, and impaired glucose metabolism type 1)
- tRNA methyltransferase 1 deficiency (Autosomal recessive intellectual disability type 68)
- DALRD3 deficiency (Early infantile epileptic encephalopathy type 86)
- FTSJ RNA 2’-O-methyltransferase 1 deficiency (X-linked intellectual disability types 9 and 44)
- NSUN2 deficiency (Autosomal recessive intellectual disability type 5)
- tRNA-specific adenosine deaminase 3 deficiency (Autosomal recessive intellectual disability type 36)
- Elongator complex protein 1 deficiency (Famillial dysautonomia)
- Elongator complex protein 2 deficiency (Autosomal recessive intellectual disability type 58)
- Galloway-Mowat syndrome, YRDC type
- Galloway-Mowat syndrome, GON7 type
- Galloway-Mowat syndrome type 2
- Galloway-Mowat syndrome type 3
- Galloway-Mowat syndrome type 4
- Galloway-Mowat syndrome type 5
- Pseudouridine synthase 3 deficiency (Autosomal recessive intellectual disability type 55)
- Galloway-Mowat syndrome type 6
- Alanyl-tRNA synthetase 1 deficiency (Early infantile epileptic encephalopathy type 29, recessive; axonal Charcot-Marie-Tooth disease type 2N, dominant)
- Arginyl-tRNA synthetase 1 deficiency (Hypomyelinating leukodystrophy type 9)
- Asparaginyl-tRNA synthetase 1 deficiency
- Aspartyl-tRNA synthetase 1 deficiency (Hypomyelination with brainstem and spinal cord involvement and leg spasticity)
- Cysteinyl-tRNA synthetase 1 deficiency (Microcephaly, developmental delay, and brittle hair syndrome)
- Glutaminyl-tRNA synthetase 1 deficiency (Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy)
- Glutamyl-prolyl-tRNA synthetase 1 deficiency (Hypomyelinating leukodystrophy type 15)
- Histidyl-tRNA synthetase 1 deficiency (Axonal Charcot-Marie-Tooth type 2W; Usher syndrome type 3B)
- Isoleucyl-tRNA synthetase 1 deficiency (Growth retardation, impaired intellectual development, hypotonia, and hepatopathy)
- Leucyl-tRNA synthetase 1 deficiency (Infantile liver failure syndrome type 1)
- Lysyl-tRNA synthetase 1 deficiency (Recessive intermediate Charcot-Marie-Tooth disease type B; autosomal recessive deafness type 89)
- Methionyl-tRNA synthetase 1 deficiency (Interstitial lung and liver disease, recessive; axonal Charcot-Marie-Tooth type 2U, dominant)
- Phenylalanyl-tRNA synthetase subunit alpha deficiency (Rajab interstitial lung disease with brain calcifications type 2)
- Phenylalanyl-tRNA synthetase subunit beta deficiency (Rajab interstitial lung disease with brain calcifications type 1)
- Seryl-tRNA synthetase 1 deficiency (Neurodevelopmental disorder with microcephaly, ataxia, and seizures)
- Threonyl-tRNA synthetase 1 deficiency (Nonphotosensitive trichothiodystrophy type 7)
- Tryptophanyl-tRNA synthetase 1 deficiency (Distal hereditary motor neuronopathy type 9)
- Tyrosyl-tRNA synthetase 1 deficiency (Dominant intermediate Charcot-Marie-Tooth type C)
- Valyl-tRNA synthetase 1 deficiency (Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy)
- AIMP1/p43 deficiency (Hypomyelinating leukodystrophy type 3)
- AIMP2/p38 deficiency (Hypomyelinating leukodystrophy type 17)
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
