MCID: PNT019
MIFTS: 41

Pontocerebellar Hypoplasia

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 73
Opch 25

Classifications:



External Ids:

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

Summaries for Pontocerebellar Hypoplasia

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.

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, brain and pons.

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.

Wikipedia : 76 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
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 57)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 5 33.5 TSEN54 VRK1
2 pontocerebellar hypoplasia, type 1b 33.4 EXOSC3 EXOSC8
3 pontocerebellar hypoplasia, type 2e 32.8 TSEN15 TSEN2 TSEN34 TSEN54
4 pontocerebellar hypoplasia, type 6 32.7 RARS2 TSEN2 TSEN34 TSEN54 VRK1
5 pontocerebellar hypoplasia type 1 32.1 EXOSC3 EXOSC8 RARS2 TSEN54 VRK1
6 microcephaly 27.9 EXOSC3 TSEN15 TSEN2 TSEN34 TSEN54 VRK1
7 pontocerebellar hypoplasia, type 4 12.6
8 pontocerebellar hypoplasia, type 3 12.6
9 pontocerebellar hypoplasia, type 2a 12.5
10 pontocerebellar hypoplasia, type 1a 12.5
11 pontocerebellar hypoplasia, type 10 12.5
12 pontocerebellar hypoplasia, type 9 12.5
13 pontocerebellar hypoplasia, type 2d 12.5
14 pontocerebellar hypoplasia, type 8 12.4
15 pontocerebellar hypoplasia, type 7 12.4
16 pontocerebellar hypoplasia, type 2b 12.4
17 pontocerebellar hypoplasia, type 2c 12.4
18 pontocerebellar hypoplasia, type 11 12.4
19 pontocerebellar hypoplasia, type 2f 12.4
20 pontocerebellar hypoplasia, type 1c 12.3
21 exosc3-related pontocerebellar hypoplasia 12.2
22 tsen54-related pontocerebellar hypoplasia 12.1
23 microcephaly pontocerebellar hypoplasia dyskinesia 12.0
24 paroxysmal cold hemoglobinuria 11.9
25 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.7
26 x-linked intellectual disability, najm type 11.7
27 cortical dysplasia, complex, with other brain malformations 1 11.2
28 spinal muscular atrophy 10.2
29 muscular atrophy 10.2
30 neuronitis 10.1
31 tetralogy of fallot 10.0
32 cerebritis 10.0
33 anterior horn cell disease 10.0
34 type i 10.0
35 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.9
36 muscular dystrophy, congenital, lmna-related 9.9
37 bainbridge-ropers syndrome 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
40 cerebral palsy 9.9
41 hereditary ataxia 9.9
42 motor neuron disease 9.9
43 lissencephaly 9.9
44 dyskinetic cerebral palsy 9.9
45 keratomalacia 9.9
46 epilepsy 9.9
47 dystonia 9.9
48 axonal neuropathy 9.9
49 malignant hyperthermia 9.9
50 neuropathy 9.9

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 Not yet recruiting 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:

41
Cerebellum, Brain, Pons, Testes, Bone, Bone Marrow

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 112)
# Title Authors Year
1
<i>TSEN54</i> Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. ( 29410950 )
2018
2
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. ( 29463858 )
2018
3
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526 )
2018
4
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. ( 29316359 )
2018
5
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. ( 29903031 )
2018
6
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. ( 29656927 )
2018
7
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. ( 29307788 )
2018
8
Teaching Neuro<i>Images</i>: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). ( 28972112 )
2017
9
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. ( 28092684 )
2017
10
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. ( 27777260 )
2017
11
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. ( 28637197 )
2017
12
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. ( 28687512 )
2017
13
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. ( 28815207 )
2017
14
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ( 28168832 )
2017
15
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. ( 28823706 )
2017
16
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. ( 28823707 )
2017
17
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. ( 28653766 )
2017
18
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? ( 27570394 )
2016
19
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. ( 27769281 )
2016
20
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. ( 27281532 )
2016
21
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. ( 26805434 )
2016
22
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
23
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27588454 )
2016
24
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. ( 27370523 )
2016
25
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? ( 27683254 )
2016
26
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. ( 27543974 )
2016
27
Brain morphometry in Pontocerebellar Hypoplasia type 2. ( 27430971 )
2016
28
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27392077 )
2016
29
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
30
Loss of PCLO function underlies pontocerebellar hypoplasia type III. ( 25832664 )
2015
31
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-I^ precursor protein-dependent mechanism. ( 25609612 )
2015
32
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317 )
2015
33
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. ( 26701950 )
2015
34
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ( 27066553 )
2015
35
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. ( 25809939 )
2015
36
Natural course of pontocerebellar hypoplasia type 2A. ( 24886362 )
2014
37
Pontocerebellar hypoplasia. ( 24924738 )
2014
38
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
39
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. ( 24524299 )
2014
40
Neuropathologic features of pontocerebellar hypoplasia type 6. ( 25289895 )
2014
41
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. ( 24891912 )
2014
42
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. ( 23177318 )
2013
43
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. ( 23623288 )
2013
44
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. ( 24047924 )
2013
45
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. ( 23290020 )
2013
46
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. ( 23686794 )
2013
47
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. ( 22569581 )
2013
48
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. ( 23284067 )
2013
49
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. ( 22532556 )
2013
50
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. ( 23883322 )
2013

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:

37
# 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 cytoplasmic exosome (RNase complex) GO:0000177 9.32 EXOSC3 EXOSC8
5 nuclear exosome (RNase complex) GO:0000176 9.26 EXOSC3 EXOSC8
6 tRNA-intron endonuclease complex GO:0000214 8.92 CLP1 TSEN2 TSEN34 TSEN54

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 9.77 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 9.62 TSEN15 TSEN2 TSEN34 TSEN54
4 RNA phosphodiester bond hydrolysis GO:0090501 9.56 TSEN15 TSEN2 TSEN34 TSEN54
5 tRNA processing GO:0008033 9.55 CLP1 TSEN15 TSEN2 TSEN34 TSEN54
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 U4 snRNA 3-end processing GO:0034475 9.48 EXOSC3 EXOSC8
9 exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.46 EXOSC3 EXOSC8
10 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 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 9.43 TSEN15 TSEN2 TSEN34
2 3-5-exoribonuclease activity GO:0000175 9.32 EXOSC3 TOE1
3 exoribonuclease activity GO:0004532 9.16 EXOSC3 EXOSC8
4 endonuclease activity GO:0004519 9.13 TSEN15 TSEN2 TSEN34
5 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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