Pontocerebellar Hypoplasia Type 6

Pch6 not included

Also Known As:

Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Spinocerebellar Degenerations: 353
      - Olivopontocerebellar Atrophies: 175
        Pontocerebellar Hypoplasia Type 6: 12

Related Diseases

1.	Mitochondrial Diseases (Mitochondrial Disease)
2.	Brain Diseases (Brain Disorder)
3.	Neurodevelopmental Disorders
4.	Leukoencephalopathies
5.	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)

Experts

1.	Baas, Frank: 2 articles (01/2017 - 01/2011)
2.	Poll-The, Bwee Tien: 2 articles (01/2017 - 01/2011)
3.	van Ruissen, Fred: 2 articles (01/2017 - 01/2011)
4.	Chen, Lina: 1 article (01/2022)
5.	Li, Niu: 1 article (01/2022)
6.	Wang, Jian: 1 article (01/2022)
7.	Xu, Yufei: 1 article (01/2022)
8.	Yao, Ruen: 1 article (01/2022)
9.	Yu, Tingting: 1 article (01/2022)
10.	Yu, Yafen: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pontocerebellar Hypoplasia Type 6:

1.	Arginine-tRNA LigaseIBA 01/01/2018 - "Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. " 01/01/2017 - "Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). " 05/01/2012 - "Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2." 01/01/2022 - "Pontocerebellar hypoplasia type 6 (PCH6) is an early-onset encephalopathy with/without mitochondrial respiratory complex defects caused by recessive mutations in mitochondrial arginyl-tRNA synthetase (RARS2). "
2.	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/01/2015 - "Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). " 11/01/2014 - "Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. " 05/01/2012 - "Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524), the gene encoding mitochondrial arginyl-transfer RNA (tRNA) synthetase, a protein essential for translation of all mitochondrially synthesised proteins. " 03/01/2020 - "Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial arginine-tRNA synthetase enzyme (mtArgRS). "
3.	Transfer RNA (tRNA)IBA 05/01/2012 - "Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524), the gene encoding mitochondrial arginyl-transfer RNA (tRNA) synthetase, a protein essential for translation of all mitochondrially synthesised proteins. " 01/01/2011 - "Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. "
4.	Proteins (Proteins, Gene)FDA Link 05/01/2012 - "Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524), the gene encoding mitochondrial arginyl-transfer RNA (tRNA) synthetase, a protein essential for translation of all mitochondrially synthesised proteins. "
5.	Ligases (Synthetase)IBA 01/01/2011 - "Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. "
6.	EnzymesIBA 03/01/2020 - "Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial arginine-tRNA synthetase enzyme (mtArgRS). "
7.	Mitochondrial DNA (mtDNA)IBA 11/02/2019 - "The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. "
8.	Biotin (Vitamin H)FDA Link 12/21/2021 - "In this report, we present the case of a neonate with a diagnosis of pontocerebellar hypoplasia type 6 (PCH6) treated with biotin who developed biotin interference with laboratory thyroid function tests. " 12/21/2021 - "A Neonate with a Diagnosis of Pontocerebellar Hypoplasia Type 6 Treated with Biotin and Developed Biotin Interference with Laboratory Thyroid Function Tests."
9.	Arginine (L-Arginine)FDA Link 03/01/2020 - "Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial arginine-tRNA synthetase enzyme (mtArgRS). "
10.	alpha-tocotrienol quinoneIBA 01/01/2019 - "The clinical-stage therapeutic vatiquinone (EPI-743, α-tocotrienol quinone) was reported to reduce seizure frequency and associated morbidity in children with the mitochondrial disorder pontocerebellar hypoplasia type 6. We sought to elucidate the molecular mechanism of EPI-743 and explore the potential of targeting 15-LO to treat additional mitochondrial disease-associated epilepsies. "