MCID: PNT019
MIFTS: 38

Pontocerebellar Hypoplasia

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

Aliases & Classifications for Pontocerebellar Hypoplasia

MalaCards integrated aliases for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 12 50 24 25 42 14
Pch 12 25
Congenital Pontocerebellar Hypoplasia 25
Pontoneocerebellar Hypoplasia 69
Opch 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0060264
MeSH 42 C580383
SNOMED-CT 64 45163000
UMLS 69 C0266468

Summaries for Pontocerebellar Hypoplasia

NIH Rare Diseases : 50 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. last updated: 12/18/2012

MalaCards based summary : Pontocerebellar Hypoplasia, also known as pch, is related to pontocerebellar hypoplasia type 5 and pontocerebellar hypoplasia, type 3. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include brain, cerebellum 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 : 72 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 7 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia Type 2b
Pontocerebellar Hypoplasia Type 2d Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia Type 1a Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia Type 2a
Pontocerebellar Hypoplasia Type 4 Pontocerebellar Hypoplasia Type 5
Pontocerebellar Hypoplasia Type 2c Exosc3-Related Pontocerebellar Hypoplasia
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1
Tsen2-Related Pontocerebellar Hypoplasia Tsen34-Related Pontocerebellar Hypoplasia

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

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia type 5 12.4
2 pontocerebellar hypoplasia, type 3 12.4
3 pontocerebellar hypoplasia, type 6 12.4
4 pontocerebellar hypoplasia type 4 12.4
5 pontocerebellar hypoplasia, type 9 12.4
6 pontocerebellar hypoplasia type 2a 12.4
7 pontocerebellar hypoplasia type 2d 12.4
8 pontocerebellar hypoplasia, type 1b 12.4
9 pontocerebellar hypoplasia, type 2e 12.3
10 pontocerebellar hypoplasia, type 8 12.3
11 pontocerebellar hypoplasia type 1 12.3
12 pontocerebellar hypoplasia, type 10 12.3
13 pontocerebellar hypoplasia type 1a 12.3
14 pontocerebellar hypoplasia, type 7 12.3
15 pontocerebellar hypoplasia type 2c 12.2
16 pontocerebellar hypoplasia type 2b 12.2
17 pontocerebellar hypoplasia, type 2f 12.2
18 pontocerebellar hypoplasia, type 1c 12.2
19 exosc3-related pontocerebellar hypoplasia 12.0
20 tsen54-related pontocerebellar hypoplasia 12.0
21 tsen2-related pontocerebellar hypoplasia 11.9
22 tsen34-related pontocerebellar hypoplasia 11.9
23 microcephaly pontocerebellar hypoplasia dyskinesia 11.9
24 paroxysmal cold hemoglobinuria 11.8
25 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.6
26 cortical dysplasia, complex, with other brain malformations 1 11.1
27 x-linked intellectual disability, najm type 11.0
28 microcephaly 10.2
29 night blindness, congenital stationary , 1a, x-linked 10.1 TSEN54 VRK1
30 muscular atrophy 10.1
31 spinal muscular atrophy 10.1
32 neuronitis 10.0
33 anterior horn cell disease 9.9
34 tetralogy of fallot 9.9
35 hemophagocytic lymphohistiocytosis, familial, 3 9.8 TSEN54 VRK1
36 cerebritis 9.8
37 cardiomyopathy 9.8
38 intellectual disability 9.8
39 dystonia 9.8
40 primary microcephaly 9.8
41 axonal neuropathy 9.8
42 ataxia 9.8
43 malignant hyperthermia 9.8
44 encephalopathy 9.8
45 neuropathy 9.8
46 hypotonia 9.8
47 muscular dystrophy 9.8
48 myoclonus 9.8
49 hereditary ataxia 9.8
50 motor neuron disease 9.8

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

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia

Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

Genetic tests related to Pontocerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia 24 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

39
Brain, Cerebellum, Pons, Testes, Bone, Bone Marrow

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 104)
id Title Authors Year
1
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. ( 28637197 )
2017
2
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. ( 27777260 )
2017
3
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. ( 28815207 )
2017
4
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. ( 28092684 )
2017
5
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. ( 28687512 )
2017
6
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. ( 28823707 )
2017
7
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ( 28168832 )
2017
8
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. ( 28823706 )
2017
9
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. ( 28653766 )
2017
10
Brain morphometry in Pontocerebellar Hypoplasia type 2. ( 27430971 )
2016
11
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. ( 26805434 )
2016
12
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
13
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27392077 )
2016
14
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. ( 27769281 )
2016
15
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. ( 27370523 )
2016
16
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? ( 27683254 )
2016
17
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. ( 27281532 )
2016
18
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. ( 27543974 )
2016
19
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27588454 )
2016
20
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? ( 27570394 )
2016
21
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-I^ precursor protein-dependent mechanism. ( 25609612 )
2015
22
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. ( 26701950 )
2015
23
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ( 27066553 )
2015
24
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317 )
2015
25
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
26
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. ( 25809939 )
2015
27
Loss of PCLO function underlies pontocerebellar hypoplasia type III. ( 25832664 )
2015
28
Neuropathologic features of pontocerebellar hypoplasia type 6. ( 25289895 )
2014
29
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. ( 24891912 )
2014
30
Natural course of pontocerebellar hypoplasia type 2A. ( 24886362 )
2014
31
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
32
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. ( 24524299 )
2014
33
Pontocerebellar hypoplasia. ( 24924738 )
2014
34
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. ( 23284067 )
2013
35
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. ( 23686794 )
2013
36
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. ( 23290020 )
2013
37
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. ( 23177318 )
2013
38
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. ( 24047924 )
2013
39
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. ( 22532556 )
2013
40
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. ( 23883322 )
2013
41
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. ( 23307886 )
2013
42
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. ( 22569581 )
2013
43
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. ( 23623288 )
2013
44
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. ( 23562994 )
2013
45
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. ( 21880448 )
2012
46
Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype? ( 23072181 )
2012
47
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. ( 22544365 )
2012
48
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. ( 22086604 )
2012
49
Affective disorder associated with pontocerebellar hypoplasia. ( 23086315 )
2012
50
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. ( 22452838 )
2012

Variations for Pontocerebellar Hypoplasia

Expression for Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for Pontocerebellar Hypoplasia

GO Terms for Pontocerebellar Hypoplasia

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

id 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 9.02 EXOSC3
5 cytoplasmic exosome (RNase complex) GO:0000177 8.96 EXOSC3
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)
id 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 9.19 EXOSC3
8 U4 snRNA 3-end processing GO:0034475 9.18 EXOSC3
9 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.16 EXOSC3
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 9.13 EXOSC3
11 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN2 TSEN34 TSEN54
12 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.1 EXOSC3
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:

id Name GO ID Score Top Affiliating Genes
1 3-5-exoribonuclease activity GO:0000175 9.26 EXOSC3 TOE1
2 exoribonuclease activity GO:0004532 9.16 EXOSC3 EXOSC8
3 endonuclease activity GO:0004519 9.13 TSEN15 TSEN2 TSEN34
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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