Pontocerebellar Hypoplasia (PCH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pontocerebellar Hypoplasia

MalaCards integrated aliases for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 12 53 25 37 44 15
Pch 12 25
Congenital Pontocerebellar Hypoplasia 25
Pontoneocerebellar Hypoplasia 72
Hypoplasia, Pontocerebellar 40
Opch 25


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Disease Ontology 12 DOID:0060264
KEGG 37 H00897
MeSH 44 C580383
SNOMED-CT 68 45163000
UMLS 72 C0266468 C1261175

Summaries for Pontocerebellar Hypoplasia

Genetics Home Reference : 25 Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.

MalaCards based summary : Pontocerebellar Hypoplasia, also known as pch, is related to pontocerebellar hypoplasia, type 5 and pontocerebellar hypoplasia, type 1a. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and mRNA surveillance pathway. Affiliated tissues include cerebellum, pons and brain.

Disease Ontology : 12 A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.

NIH Rare Diseases : 53 Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. Several forms of PCH have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability. Although each form has a different genetic cause, they are all inherited in an autosomal recessive manner. Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood. Treatment is symptomatic and supportive.

KEGG : 37
Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.

Wikipedia : 75 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by... more...

Related Diseases for Pontocerebellar Hypoplasia

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 5 34.4 VRK1 TSEN54
2 pontocerebellar hypoplasia, type 1a 34.3 VRK1 CHMP1A
3 pontocerebellar hypoplasia, type 6 34.0 VRK1 TSEN54 TSEN34 TSEN2 RARS2
4 pontocerebellar hypoplasia, type 1b 34.0 EXOSC8 EXOSC3
5 pontocerebellar hypoplasia, type 2e 33.0 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
6 pontocerebellar hypoplasia type 1 32.2 VRK1 TSEN54 RARS2 EXOSC9 EXOSC8 EXOSC3
7 microcephaly 29.9 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TBC1D23
8 pontocerebellar hypoplasia, type 4 12.9
9 pontocerebellar hypoplasia, type 3 12.9
10 pontocerebellar hypoplasia, type 2a 12.9
11 pontocerebellar hypoplasia, type 7 12.9
12 pontocerebellar hypoplasia, type 10 12.8
13 pontocerebellar hypoplasia, type 9 12.8
14 pontocerebellar hypoplasia, type 2b 12.8
15 pontocerebellar hypoplasia, type 2c 12.8
16 pontocerebellar hypoplasia, type 2d 12.8
17 pontocerebellar hypoplasia, type 11 12.8
18 pontocerebellar hypoplasia, type 2f 12.8
19 pontocerebellar hypoplasia, type 8 12.8
20 pontocerebellar hypoplasia, type 12 12.7
21 pontocerebellar hypoplasia, type 1c 12.7
22 pontocerebellar hypoplasia, type 1d 12.7
23 exosc3-related pontocerebellar hypoplasia 12.5
24 tsen54-related pontocerebellar hypoplasia 12.4
25 microcephaly pontocerebellar hypoplasia dyskinesia 12.3
26 non-syndromic pontocerebellar hypoplasia 12.3
27 paroxysmal cold hemoglobinuria 12.3
28 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.1
29 cortical dysplasia, complex, with other brain malformations 1 12.0
30 x-linked intellectual disability, najm type 12.0
31 blood group, globoside system 11.2
32 hypotonia 10.6
33 spinal muscular atrophy 10.6
34 muscular atrophy 10.6
35 cerebellar hypoplasia 10.5
36 dystonia 10.5
37 spasticity 10.5
38 hemoglobinuria 10.5
39 3-methylglutaconic aciduria, type iii 10.4
40 ataxia and polyneuropathy, adult-onset 10.4
41 chorea, childhood-onset, with psychomotor retardation 10.4
42 choreatic disease 10.4
43 cerebral atrophy 10.4
44 alacrima, achalasia, and mental retardation syndrome 10.4
45 spinal muscular atrophy, type i 10.3
46 alkuraya-kucinskas syndrome 10.3
47 polyhydramnios 10.3
48 congenital amyoplasia 10.3
49 autosomal recessive disease 10.3
50 hereditary ataxia 10.3

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia:

Diseases related to Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Pontocerebellar Hypoplasia

Drugs & Therapeutics for Pontocerebellar Hypoplasia

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868

Search NIH Clinical Center for Pontocerebellar Hypoplasia

Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

Anatomical Context for Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

Cerebellum, Pons, Brain, Spinal Cord, Eye, Bone, Bone Marrow

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 221)
# Title Authors PMID Year
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 38
30976113 2019
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 38
31102495 2019
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 38
31261436 2019
Role of tbc1 in Drosophila embryonic salivary glands. 38
31242864 2019
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. 38
30924036 2019
Critical role for Piccolo in synaptic vesicle retrieval. 38
31074746 2019
Developmental outcomes in children with congenital cerebellar malformations. 38
30320441 2019
Zebrin II Is Ectopically Expressed in Microglia in the Cerebellum of Neurogenin 2 Null Mice. 38
29909450 2019
Recent Insights Into the Structure, Function, and Evolution of the RNA-Splicing Endonucleases. 38
30809252 2019
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. 38
30025162 2019
Expanded PCH1D phenotype linked to EXOSC9 mutation. 38
30690203 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. 38
30921410 2019
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases. 38
28675887 2019
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. 38
30089829 2019
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 38
30089828 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. 38
30151950 2018
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 38
30289607 2018
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 38
29709707 2018
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 38
30141626 2018
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. 38
30348860 2018
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. 38
29464431 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 38
29967526 2018
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. 38
30006346 2018
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. 38
29791932 2018
Novel CASK mutations in cases with syndromic microcephaly. 38
29691940 2018
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. 38
29656927 2018
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. 38
30044992 2018
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. 38
29903031 2018
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 38
29881806 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. 38
29727687 2018
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. 38
29307788 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. 38
29463858 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. 38
29316359 2018
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. 38
28653766 2018
The RNA exosome and RNA exosome-linked disease. 38
29093021 2018
Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis. 38
28917055 2018
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. 38
29434700 2018
Cerebellar networks and neuropathology of cerebellar developmental disorders. 38
29903435 2018
Conventional MRI. 38
29903441 2018
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing. 38
30581635 2018
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. 38
29410950 2018
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. 38
28687512 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. 38
28969387 2017
Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). 38
28972112 2017
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. 38
28815207 2017
Mpp6 Incorporation in the Nuclear Exosome Contributes to RNA Channeling through the Mtr4 Helicase. 38
28877463 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 38
28823707 2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. 38
28823706 2017
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. 38
28637197 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. 38
28549128 2017

Variations for Pontocerebellar Hypoplasia

Expression for Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for Pontocerebellar Hypoplasia

Pathways related to Pontocerebellar Hypoplasia according to KEGG:

# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 mRNA surveillance pathway hsa03015
3 RNA degradation hsa03018

GO Terms for Pontocerebellar Hypoplasia

Cellular components related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.81 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
2 exosome (RNase complex) GO:0000178 9.5 EXOSC9 EXOSC8 EXOSC3
3 nuclear exosome (RNase complex) GO:0000176 9.43 EXOSC9 EXOSC8 EXOSC3
4 cytoplasmic exosome (RNase complex) GO:0000177 9.13 EXOSC9 EXOSC8 EXOSC3
5 tRNA-intron endonuclease complex GO:0000214 8.92 TSEN54 TSEN34 TSEN2 CLP1
6 nucleus GO:0005634 10.18 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
7 nucleoplasm GO:0005654 10.07 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1

Biological processes related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.93 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
2 rRNA processing GO:0006364 9.77 EXOSC9 EXOSC8 EXOSC3
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.76 TSEN34 TSEN2 TSEN15
4 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.76 TSEN54 TSEN34 TSEN2 TSEN15
5 regulation of mRNA stability GO:0043488 9.73 EXOSC9 EXOSC8 EXOSC3
6 RNA phosphodiester bond hydrolysis GO:0090501 9.7 TSEN34 TSEN2 TSEN15
7 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.65 EXOSC9 EXOSC8 EXOSC3
8 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.61 EXOSC9 EXOSC8 EXOSC3
9 rRNA catabolic process GO:0016075 9.58 EXOSC9 EXOSC8
10 U4 snRNA 3'-end processing GO:0034475 9.58 EXOSC9 EXOSC8 EXOSC3
11 nuclear mRNA surveillance GO:0071028 9.57 EXOSC9 EXOSC8
12 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.55 EXOSC9 EXOSC8
13 tRNA processing GO:0008033 9.55 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
14 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.54 EXOSC9 EXOSC8 EXOSC3
15 U5 snRNA 3'-end processing GO:0034476 9.51 EXOSC9 EXOSC8
16 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.5 EXOSC9 EXOSC8 EXOSC3
17 U1 snRNA 3'-end processing GO:0034473 9.49 EXOSC9 EXOSC8
18 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.43 EXOSC9 EXOSC8 EXOSC3
19 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN54 TSEN34 TSEN2
20 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.02 TSEN54 TSEN34 TSEN2 TSEN15 CLP1

Molecular functions related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.5 TSEN34 TSEN2 TSEN15
2 3'-5'-exoribonuclease activity GO:0000175 9.33 TOE1 EXOSC9 EXOSC3
3 AU-rich element binding GO:0017091 9.26 EXOSC9 EXOSC8
4 exoribonuclease activity GO:0004532 9.13 EXOSC9 EXOSC8 EXOSC3
5 tRNA-intron endonuclease activity GO:0000213 8.92 TSEN54 TSEN34 TSEN2 TSEN15

Sources for Pontocerebellar Hypoplasia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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