MCID: PNT019
MIFTS: 43

Pontocerebellar Hypoplasia

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 54 26 38 45 15
Pch 12 26
Congenital Pontocerebellar Hypoplasia 26
Pontoneocerebellar Hypoplasia 74
Hypoplasia, Pontocerebellar 41
Opch 26

Classifications:



External Ids:

Disease Ontology 12 DOID:0060264
KEGG 38 H00897
MeSH 45 C580383
SNOMED-CT 69 45163000

Summaries for Pontocerebellar Hypoplasia

NIH Rare Diseases : 54 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.

MalaCards based summary : Pontocerebellar Hypoplasia, also known as pch, is related to pontocerebellar hypoplasia, type 5 and pontocerebellar hypoplasia, type 1b. 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.

Genetics Home Reference : 26 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.

Wikipedia : 77 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
Exosc3-Related Pontocerebellar Hypoplasia Tsen54-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 5 34.1 TSEN54 VRK1
2 pontocerebellar hypoplasia, type 1b 33.9 EXOSC3 EXOSC8
3 pontocerebellar hypoplasia, type 6 33.7 RARS2 TSEN2 TSEN34 TSEN54 VRK1
4 pontocerebellar hypoplasia type 1 33.3 EXOSC3 EXOSC8 RARS2 TSEN54 VRK1
5 pontocerebellar hypoplasia, type 2e 33.2 SEPSECS TSEN15 TSEN2 TSEN34 TSEN54
6 microcephaly 29.3 EXOSC3 TBC1D23 TSEN15 TSEN2 TSEN34 TSEN54
7 pontocerebellar hypoplasia, type 4 12.8
8 pontocerebellar hypoplasia, type 3 12.8
9 pontocerebellar hypoplasia, type 2a 12.7
10 pontocerebellar hypoplasia, type 1a 12.7
11 pontocerebellar hypoplasia, type 7 12.7
12 pontocerebellar hypoplasia, type 10 12.7
13 pontocerebellar hypoplasia, type 9 12.7
14 pontocerebellar hypoplasia, type 2b 12.7
15 pontocerebellar hypoplasia, type 2c 12.7
16 pontocerebellar hypoplasia, type 2d 12.7
17 pontocerebellar hypoplasia, type 11 12.7
18 pontocerebellar hypoplasia, type 2f 12.6
19 pontocerebellar hypoplasia, type 8 12.6
20 pontocerebellar hypoplasia, type 12 12.6
21 pontocerebellar hypoplasia, type 1c 12.5
22 pontocerebellar hypoplasia, type 1d 12.5
23 exosc3-related pontocerebellar hypoplasia 12.4
24 microcephaly pontocerebellar hypoplasia dyskinesia 12.2
25 tsen54-related pontocerebellar hypoplasia 12.2
26 paroxysmal cold hemoglobinuria 12.1
27 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.9
28 cortical dysplasia, complex, with other brain malformations 1 11.9
29 x-linked intellectual disability, najm type 11.8
30 blood group, globoside system 11.1
31 spinal muscular atrophy 10.3
32 muscular atrophy 10.3
33 cystic fibrosis 10.2
34 hemoglobinuria 10.2
35 tetralogy of fallot 10.1
36 anterior horn cell disease 10.1
37 malaria 10.0
38 intraocular pressure quantitative trait locus 10.0
39 pulmonary hypertension, primary, 3 10.0
40 nevus comedonicus 10.0
41 pemphigus foliaceus 10.0
42 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
43 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.0
44 ataxia and polyneuropathy, adult-onset 10.0
45 muscular dystrophy, congenital, lmna-related 10.0
46 bainbridge-ropers syndrome 10.0
47 alacrima, achalasia, and mental retardation syndrome 10.0
48 spastic paraplegia 63, autosomal recessive 10.0
49 neuropathy, hereditary motor and sensory, type vib 10.0
50 lymphatic malformation 7 10.0

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 Long-term Outcome of Newborns With an Isolated Small Cerebellum 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:

42
Cerebellum, Pons, Brain, Bone, Testes, Bone Marrow, Eye

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 179)
# Title Authors Year
1
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. ( 30089829 )
2019
2
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. ( 30924036 )
2019
3
The updated classification of PVOD/PCH: A slight but meaningful change. ( 31103397 )
2019
4
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. ( 29316359 )
2018
5
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. ( 29410950 )
2018
6
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526 )
2018
7
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. ( 30089828 )
2018
8
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. ( 30151950 )
2018
9
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. ( 29307788 )
2018
10
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. ( 29463858 )
2018
11
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. ( 29656927 )
2018
12
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. ( 29903031 )
2018
13
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. ( 30025162 )
2018
14
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). ( 30141626 )
2018
15
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. ( 30348860 )
2018
16
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. ( 28653766 )
2018
17
Pch Genes Control Biofilm and Cell Adhesion in a Clinical Serotype O157:H7 Isolate. ( 30532745 )
2018
18
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? ( 27683254 )
2017
19
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. ( 28637197 )
2017
20
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. ( 28687512 )
2017
21
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. ( 28815207 )
2017
22
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. ( 28823706 )
2017
23
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. ( 28823707 )
2017
24
Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). ( 28972112 )
2017
25
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. ( 27777260 )
2017
26
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. ( 28092684 )
2017
27
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ( 28168832 )
2017
28
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. ( 27370523 )
2016
29
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27392077 )
2016
30
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27588454 )
2016
31
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. ( 26951492 )
2016
32
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. ( 26805434 )
2016
33
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. ( 27281532 )
2016
34
Brain morphometry in Pontocerebellar Hypoplasia type 2. ( 27430971 )
2016
35
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. ( 27543974 )
2016
36
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? ( 27570394 )
2016
37
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. ( 27769281 )
2016
38
Gene Activation through the Modulation of Nucleoid Structures by a Horizontally Transferred Regulator, Pch, in Enterohemorrhagic Escherichia coli. ( 26901318 )
2016
39
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ( 27066553 )
2015
40
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317 )
2015
41
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. ( 26083569 )
2015
42
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism. ( 25609612 )
2015
43
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. ( 25809939 )
2015
44
Loss of PCLO function underlies pontocerebellar hypoplasia type III. ( 25832664 )
2015
45
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. ( 26701950 )
2015
46
PCH-2 regulates Caenorhabditis elegans lifespan. ( 25635513 )
2015
47
From EBM to PCH: always predictable, now inexorable. Editorial Introduction to the 2015 Evidence Based Medicine Thematic Issue of the Journal of Evaluation in Clinical Practice. ( 26915829 )
2015
48
A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
49
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. ( 23307886 )
2014
50
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. ( 23623288 )
2014

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:

38
# 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 nucleoplasm GO:0005654 9.81 CLP1 EXOSC3 EXOSC8 TOE1 TSEN15 TSEN2
2 nucleolus GO:0005730 9.56 EXOSC3 EXOSC8 TOE1 TSEN15 TSEN2 TSEN34
3 exosome (RNase complex) GO:0000178 9.37 EXOSC3 EXOSC8
4 nuclear exosome (RNase complex) GO:0000176 9.32 EXOSC3 EXOSC8
5 cytoplasmic exosome (RNase complex) GO:0000177 9.26 EXOSC3 EXOSC8
6 tRNA-intron endonuclease complex GO:0000214 8.92 CLP1 TSEN2 TSEN34 TSEN54
7 nucleus GO:0005634 10.1 CLP1 EXOSC3 EXOSC8 SEPSECS TOE1 TSEN15

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.72 CLP1 TSEN15 TSEN2 TSEN34 TSEN54
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.69 TSEN15 TSEN2 TSEN34
3 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.56 TSEN15 TSEN2 TSEN34 TSEN54
4 tRNA processing GO:0008033 9.55 CLP1 TSEN15 TSEN2 TSEN34 TSEN54
5 RNA phosphodiester bond hydrolysis GO:0090501 9.54 TSEN15 TSEN2 TSEN34
6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.52 EXOSC3 EXOSC8
7 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.49 EXOSC3 EXOSC8
8 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.48 EXOSC3 EXOSC8
9 U4 snRNA 3'-end processing GO:0034475 9.46 EXOSC3 EXOSC8
10 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 EXOSC3 EXOSC8
11 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.4 EXOSC3 EXOSC8
12 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN2 TSEN34 TSEN54
13 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.02 CLP1 TSEN15 TSEN2 TSEN34 TSEN54

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

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.33 TSEN15 TSEN2 TSEN34
2 3'-5'-exoribonuclease activity GO:0000175 9.26 EXOSC3 TOE1
3 exoribonuclease activity GO:0004532 8.96 EXOSC3 EXOSC8
4 tRNA-intron endonuclease activity GO:0000213 8.92 TSEN15 TSEN2 TSEN34 TSEN54

Sources for Pontocerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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