Pontocerebellar hypoplasia type 1
Common Name(s)
Pontocerebellar hypoplasia type 1
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pontocerebellar hypoplasia type 1" for support, advocacy or research.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pontocerebellar hypoplasia type 1" for support, advocacy or research.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Pontocerebellar hypoplasia type 1 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pontocerebellar hypoplasia type 1" returned 3 free, full-text research articles on human participants.
First 3 results:
Journal:
Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine ...
Journal: Neurology. 2013 Jan;80(5):438-46.
Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients ...
Journal: Rev Neurol. ;44(5):281-4.
Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pontocerebellar hypoplasia type 1" returned 0 free, full-text review articles on human participants.
No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Pontocerebellar hypoplasia type 1".
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/RARS2
https://ghr.nlm.nih.gov/gene/TSEN54
https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1
https://ghr.nlm.nih.gov/gene/SEPSECS
https://ghr.nlm.nih.gov/gene/CLP1
https://ghr.nlm.nih.gov/gene/EXOSC3
https://ghr.nlm.nih.gov/gene/VRK1
https://ghr.nlm.nih.gov/gene/TSEN2
https://ghr.nlm.nih.gov/gene/TSEN34
https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia
https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1
https://ghr.nlm.nih.gov/condition/type-1-diabetes
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1
https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1
https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1
https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1
https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia
https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

Finding the right clinical trial for Pontocerebellar hypoplasia type 1 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.