MCID: PNT019
MIFTS: 37

Pontocerebellar Hypoplasia malady

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

Aliases & Classifications for Pontocerebellar Hypoplasia

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Aliases & Descriptions for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 11 48 24 25 39 13
Pch 11 25
Congenital Pontocerebellar Hypoplasia 25
 
Pontoneocerebellar Hypoplasia 68
Opch 25

Classifications:



External Ids:

Disease Ontology11 DOID:0060264
SNOMED-CT62 45163000
MeSH39 C580383
UMLS68 C0266468

Summaries for Pontocerebellar Hypoplasia

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NIH Rare Diseases:48 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 4. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways are PERK regulates gene expression and tRNA processing. Affiliated tissues include brain, pons and cerebellum.

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

Related Diseases for Pontocerebellar Hypoplasia

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Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 9 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 Pontocerebellar Hypoplasia, Type 7
Exosc3-Related Pontocerebellar Hypoplasia Tsen54-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1 Tsen2-Related Pontocerebellar Hypoplasia
Tsen34-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia 2f

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 512.4
2pontocerebellar hypoplasia type 412.4
3pontocerebellar hypoplasia, type 312.4
4pontocerebellar hypoplasia, type 612.4
5pontocerebellar hypoplasia type 2a12.4
6pontocerebellar hypoplasia type 2d12.4
7pontocerebellar hypoplasia, type 1b12.4
8pontocerebellar hypoplasia, type 2e12.4
9pontocerebellar hypoplasia, type 812.3
10pontocerebellar hypoplasia, type 1012.3
11pontocerebellar hypoplasia type 1a12.3
12pontocerebellar hypoplasia, type 912.3
13pontocerebellar hypoplasia type 2b12.3
14pontocerebellar hypoplasia type 2c12.3
15pontocerebellar hypoplasia, type 1c12.2
16pontocerebellar hypoplasia, type 712.2
17pontocerebellar hypoplasia 2f12.2
18pontocerebellar hypoplasia type 112.2
19exosc3-related pontocerebellar hypoplasia12.0
20tsen54-related pontocerebellar hypoplasia12.0
21microcephaly pontocerebellar hypoplasia dyskinesia11.9
22cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation11.8
23tsen2-related pontocerebellar hypoplasia11.8
24tsen34-related pontocerebellar hypoplasia11.8
25paroxysmal cold hemoglobinuria11.6
26mental retardation and microcephaly with pontine and cerebellar hypoplasia11.6
27x-linked intellectual disability, najm type11.0
28cortical dysplasia, complex, with other brain malformations 110.9
29microcephaly10.2
30spinal muscular atrophy10.0
31muscular atrophy10.0
32neuronitis10.0
33tetralogy of fallot9.9
34anterior horn cell disease9.9
35hereditary ataxia9.8
36motor neuron disease9.8
37lissencephaly9.8
38epilepsy9.8
39cerebritis9.8
40dystonia9.8
41axonal neuropathy9.8
42malignant hyperthermia9.8
43neuropathy9.8
44muscular dystrophy9.8
45hydrops fetalis9.8
46cardiomyopathy9.8
47intellectual disability9.8
48primary microcephaly9.8
49ataxia9.8
50encephalopathy9.8

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



Diseases related to pontocerebellar hypoplasia

Symptoms & Phenotypes for Pontocerebellar Hypoplasia

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Drugs & Therapeutics for Pontocerebellar Hypoplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pontocerebellar Hypoplasia


Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

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Genetic tests related to Pontocerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia24 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

36
Brain, Pons, Cerebellum, Bone marrow, Testes, Bone

Publications for Pontocerebellar Hypoplasia

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Articles related to Pontocerebellar Hypoplasia:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. (28092684)
2017
2
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. (27777260)
2017
3
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. (27588454)
2016
4
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. (27370523)
2016
5
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? (27570394)
2016
6
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. (27769281)
2016
7
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. (26805434)
2016
8
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. (27392077)
2016
9
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
10
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. (27281532)
2016
11
Brain morphometry in Pontocerebellar Hypoplasia type 2. (27430971)
2016
12
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? (27683254)
2016
13
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. (27543974)
2016
14
Loss of PCLO function underlies pontocerebellar hypoplasia type III. (25832664)
2015
15
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. (25809939)
2015
16
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-I^ precursor protein-dependent mechanism. (25609612)
2015
17
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. (25837317)
2015
18
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
19
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. (26701950)
2015
20
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. (27066553)
2015
21
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
22
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. (24891912)
2014
23
Pontocerebellar hypoplasia. (24924738)
2014
24
Neuropathologic features of pontocerebellar hypoplasia type 6. (25289895)
2014
25
Natural course of pontocerebellar hypoplasia type 2A. (24886362)
2014
26
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. (24938831)
2014
27
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
28
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
29
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
30
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
31
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
32
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. (23883322)
2013
33
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
34
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
35
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. (23307886)
2013
36
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. (23562994)
2013
37
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. (24047924)
2013
38
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
39
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. (22544365)
2012
40
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. (21880448)
2012
41
Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype? (23072181)
2012
42
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
43
Affective disorder associated with pontocerebellar hypoplasia. (23086315)
2012
44
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
45
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
46
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
47
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
48
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
49
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. (21215917)
2011
50
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. (21468723)
2011

Variations for Pontocerebellar Hypoplasia

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Expression for genes affiliated with Pontocerebellar Hypoplasia

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Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for genes affiliated with Pontocerebellar Hypoplasia

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GO Terms for genes affiliated with Pontocerebellar Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic exosome (RNase complex)GO:000017710.4EXOSC3, EXOSC8
2exosome (RNase complex)GO:000017810.4EXOSC3, EXOSC8
3nuclear exosome (RNase complex)GO:000017610.4EXOSC3, EXOSC8
4tRNA-intron endonuclease complexGO:00002149.3CLP1, TSEN2, TSEN34, TSEN54
5nucleolusGO:00057309.1EXOSC3, EXOSC8, TSEN2, TSEN34, TSEN54, VRK1
6nucleoplasmGO:00056548.0CLP1, EXOSC3, EXOSC8, TSEN2, TSEN34, TSEN54
7cytosolGO:00058297.6AMPD2, EXOSC3, EXOSC8, PCLO, SEPSECS, VPS53

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decayGO:004392810.3EXOSC3, EXOSC8
2exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:000046710.3EXOSC3, EXOSC8
3mRNA processingGO:000639710.2TSEN2, TSEN34, TSEN54
4nuclear polyadenylation-dependent rRNA catabolic processGO:007103510.1EXOSC3, EXOSC8
5nuclear polyadenylation-dependent tRNA catabolic processGO:007103810.1EXOSC3, EXOSC8
6nuclear-transcribed mRNA catabolic process, exonucleolytic, 3-5GO:003442710.1EXOSC3, EXOSC8
7RNA phosphodiester bond hydrolysis, endonucleolyticGO:009050210.0TSEN2, TSEN34, TSEN54
8tRNA-type intron splice site recognition and cleavageGO:00003799.8TSEN2, TSEN34, TSEN54
9U4 snRNA 3-end processingGO:00344759.6EXOSC3, EXOSC8
10tRNA splicing, via endonucleolytic cleavage and ligationGO:00063889.5CLP1, TSEN2, TSEN34, TSEN54

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

idNameGO IDScoreTop Affiliating Genes
1exoribonuclease activityGO:000453210.2EXOSC3, EXOSC8
2lyase activityGO:001682910.0TSEN2, TSEN34
3tRNA-intron endonuclease activityGO:00002139.6TSEN2, TSEN34, TSEN54

Sources for Pontocerebellar Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet