MCID: PNT019
MIFTS: 38

Pontocerebellar Hypoplasia malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Metabolic diseases, Eye diseases, Muscle diseases categories

Aliases & Classifications for Pontocerebellar Hypoplasia

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Aliases & Descriptions for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 10 45 22 23 12 36
Pch 10 23
Congenital Pontocerebellar Hypoplasia 23
 
Pontoneocerebellar Hypoplasia 65
Opch 23


Classifications:



External Ids:

Disease Ontology10 DOID:0060264
MeSH36 C580383

Summaries for Pontocerebellar Hypoplasia

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NIH Rare Diseases:45 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 6 and pontocerebellar hypoplasia type 1. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TSEN54 TRNA Splicing Endonuclease Subunit), and among its related pathways are PERK regulates gene expression and tRNA modification in the nucleus and cytosol. Affiliated tissues include brain, pons and cerebellum.

Genetics Home Reference:23 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:68 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

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia, type 630.7RARS2, TSEN2, TSEN34, TSEN54, VRK1
2pontocerebellar hypoplasia type 110.8
3pontocerebellar hypoplasia, type 310.8
4pontocerebellar hypoplasia type 410.7
5pontocerebellar hypoplasia type 2a10.7
6pontocerebellar hypoplasia type 510.7
7pontocerebellar hypoplasia, type 810.7
8pontocerebellar hypoplasia, type 2e10.7
9pontocerebellar hypoplasia type 2b10.7
10pontocerebellar hypoplasia type 1a10.7
11pontocerebellar hypoplasia type 2c10.7
12pontocerebellar hypoplasia type 2d10.7
13pontocerebellar hypoplasia, type 1b10.6
14pontocerebellar hypoplasia, type 1010.6
15pontocerebellar hypoplasia, type 910.6
16pontocerebellar hypoplasia, type 1c10.6
17pontocerebellar hypoplasia type 710.5
18exosc3-related pontocerebellar hypoplasia10.5
19tsen54-related pontocerebellar hypoplasia10.5
20microcephaly pontocerebellar hypoplasia dyskinesia10.5
21microcephaly10.4
22paroxysmal cold hemoglobinuria10.4
23spinal muscular atrophy10.4
24neuronitis10.4
25muscular atrophy10.4
26tsen2-related pontocerebellar hypoplasia10.4
27tsen34-related pontocerebellar hypoplasia10.4
28cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation10.4
29tetralogy of fallot10.3
30anterior horn cell disease10.3
31x-linked intellectual disability, najm type10.3
32hemoglobinuria10.2
33mental retardation and microcephaly with pontine and cerebellar hypoplasia10.1
34hereditary ataxia10.1
35motor neuron disease10.1
36lissencephaly10.1
37cerebritis10.1
38dystonia10.1
39muscular dystrophy10.1
40hydrops fetalis10.1
41cardiomyopathy10.1
42intellectual disability10.1
43ataxia10.1
44hypotonia10.1
45myoclonus10.1
46hemophagocytic lymphohistiocytosis, familial, 310.0TSEN54, VRK1
47the organic acidemias: an9.9TSEN2, TSEN34, TSEN54
48cerebellar ataxia, mental retardation, and dysequilibrium syndrome 29.7SEPSECS, TSEN2, TSEN34, TSEN54
49pontoneocerebellar hypoplasia9.4EXOSC3, EXOSC8, RARS2, TSEN54, VRK1
50porphyria8.3AMPD2, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO

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



Diseases related to pontocerebellar hypoplasia

Symptoms 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 Hypoplasia22 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

33
Brain, Pons, Cerebellum, Testes, Eye

Animal Models for Pontocerebellar Hypoplasia or affiliated genes

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Publications for Pontocerebellar Hypoplasia

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Articles related to Pontocerebellar Hypoplasia:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Loss of PCLO function underlies pontocerebellar hypoplasia type III. (25832664)
2015
2
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
3
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
4
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. (24891912)
2014
5
Neuropathologic features of pontocerebellar hypoplasia type 6. (25289895)
2014
6
Natural course of pontocerebellar hypoplasia type 2A. (24886362)
2014
7
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
8
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
9
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
10
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
11
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
12
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
13
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
14
Affective disorder associated with pontocerebellar hypoplasia. (23086315)
2012
15
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
16
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
17
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
18
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
19
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
20
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
21
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. (20952379)
2011
22
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? (21594990)
2011
23
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. (20956791)
2010
24
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. (20635367)
2010
25
Delayed gyration with pontocerebellar hypoplasia type 1. (19243903)
2010
26
Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma. (19644791)
2010
27
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
28
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. (19277761)
2009
29
Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox. (19359782)
2009
30
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. (19459882)
2009
31
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. (19302945)
2009
32
Pontocerebellar hypoplasia type 1. (18805371)
2008
33
Progress on pontocerebellar hypoplasia. (17710422)
2007
34
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (17847012)
2007
35
Pontocerebellar hypoplasia type 2: a neuropathological update. (17641900)
2007
36
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
37
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. (12548734)
2003
38
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. (12731647)
2003
39
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. (11952074)
2002
40
Pontocerebellar hypoplasia in two siblings with dysmorphic features. (11913577)
2002
41
Fatal outcome in a case of pontocerebellar hypoplasia type 2. (10978619)
2000
42
Early fatal pontocerebellar hypoplasia in premature twin sisters. (11008260)
2000
43
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. (10814903)
2000
44
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. (10220864)
1999
45
Familial pontocerebellar hypoplasia type I with anterior horn cell disease. (10727190)
1999
46
MR findings in pontocerebellar hypoplasia. (9662582)
1998
47
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. (9134193)
1997
48
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases. (9295852)
1997
49
Lissencephaly with pontocerebellar hypoplasia. (8734030)
1996
50
EXOSC3-Related Pontocerebellar Hypoplasia (25144110)
1993

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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Pathways related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6EXOSC3, EXOSC8
2
Show member pathways
9.3CLP1, TSEN2, TSEN34, TSEN54
3
Show member pathways
8.1CLP1, EXOSC3, EXOSC8, RARS2, TSEN2, TSEN34

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
1exosome (RNase complex)GO:000017810.2EXOSC3, EXOSC8
2tRNA-intron endonuclease complexGO:00002149.9CLP1, TSEN2, TSEN34, TSEN54
3nuclear exosome (RNase complex)GO:00001769.8EXOSC3, EXOSC8
4cytoplasmic exosome (RNase complex)GO:00001779.8EXOSC3, EXOSC8
5nucleolusGO:00057308.3EXOSC3, EXOSC8, TSEN2, TSEN34, TSEN54, VRK1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1tRNA-type intron splice site recognition and cleavageGO:000037910.3TSEN2, TSEN34, TSEN54
2RNA phosphodiester bond hydrolysisGO:009050110.2TSEN2, TSEN34, TSEN54
3exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:000046710.2EXOSC3, EXOSC8
4nuclear-transcribed mRNA catabolic process, exonucleolytic, 3-5GO:003442710.2EXOSC3, EXOSC8
5U4 snRNA 3-end processingGO:003447510.2EXOSC3, EXOSC8
6nuclear polyadenylation-dependent rRNA catabolic processGO:007103510.2EXOSC3, EXOSC8
7nuclear polyadenylation-dependent tRNA catabolic processGO:007103810.2EXOSC3, EXOSC8
8RNA phosphodiester bond hydrolysis, endonucleolyticGO:009050210.0TSEN2, TSEN34, TSEN54
9nuclear-transcribed mRNA catabolic process, deadenylation-dependent decayGO:00002889.8EXOSC3, EXOSC8
10exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decayGO:00439289.8EXOSC3, EXOSC8
11tRNA splicing, via endonucleolytic cleavage and ligationGO:00063889.7CLP1, TSEN2, TSEN34, TSEN54
12mRNA processingGO:00063979.7TSEN2, TSEN34, TSEN54
13tRNA processingGO:00080339.5CLP1, TSEN2, TSEN34, TSEN54
14gene expressionGO:00104678.1CLP1, EXOSC3, EXOSC8, RARS2, TSEN2, TSEN34

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

idNameGO IDScoreTop Affiliating Genes
1lyase activityGO:00168299.9TSEN2, TSEN34
2tRNA-intron endonuclease activityGO:00002139.6TSEN2, TSEN34, TSEN54
3exoribonuclease activityGO:00045329.3EXOSC3, EXOSC8

Sources for Pontocerebellar Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet