MCID: PNT019
MIFTS: 41

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 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
SNOMED-CT59 45163000
MeSH36 C580383
UMLS65 C0266468, C1261175

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 7 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, cerebellum and pons.

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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 727.0AMPD2, CLP1, EXOSC3, EXOSC8, PCLO, RARS2
2pontocerebellar hypoplasia type 412.5
3pontocerebellar hypoplasia, type 612.5
4pontocerebellar hypoplasia, type 312.4
5pontocerebellar hypoplasia type 512.4
6pontocerebellar hypoplasia type 2a12.4
7pontocerebellar hypoplasia type 2d12.4
8pontocerebellar hypoplasia type 112.4
9pontocerebellar hypoplasia, type 2e12.4
10pontocerebellar hypoplasia, type 812.3
11pontocerebellar hypoplasia type 1a12.3
12pontocerebellar hypoplasia, type 1012.3
13pontocerebellar hypoplasia type 2b12.3
14pontocerebellar hypoplasia, type 1b12.3
15pontocerebellar hypoplasia type 2c12.3
16pontocerebellar hypoplasia, type 912.3
17pontocerebellar hypoplasia, type 1c12.2
18exosc3-related pontocerebellar hypoplasia12.2
19tsen54-related pontocerebellar hypoplasia12.2
20microcephaly pontocerebellar hypoplasia dyskinesia12.0
21tsen2-related pontocerebellar hypoplasia12.0
22tsen34-related pontocerebellar hypoplasia12.0
23cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation12.0
24paroxysmal cold hemoglobinuria11.6
25x-linked intellectual disability, najm type11.2
26microcephaly10.2
27mental retardation and microcephaly with pontine and cerebellar hypoplasia10.1
28spinal muscular atrophy10.1
29muscular atrophy10.1
30neuronitis10.1
31tetralogy of fallot10.0
32anterior horn cell disease10.0
33hereditary ataxia9.9
34motor neuron disease9.9
35lissencephaly9.9
36cerebritis9.9
37dystonia9.9
38axonal neuropathy9.9
39neuropathy9.9
40muscular dystrophy9.9
41hydrops fetalis9.9
42cardiomyopathy9.9
43intellectual disability9.9
44primary microcephaly9.9
45ataxia9.9
46hypotonia9.9
47myoclonus9.9
48epilepsy, partial, with pericentral spikes9.9SEPSECS, VPS53
49thoracic aortic aneurysms and aortic dissections9.9TSEN2, TSEN34, TSEN54
50hemophagocytic lymphohistiocytosis, familial, 39.7TSEN54, VRK1

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, Cerebellum, Pons, Liver, Prostate, Endothelial, Pineal

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 86)
idTitleAuthorsYear
1
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. (26805434)
2016
2
Loss of PCLO function underlies pontocerebellar hypoplasia type III. (25832664)
2015
3
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
4
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. (25809939)
2015
5
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. (26701950)
2015
6
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
7
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. (24891912)
2014
8
Neuropathologic features of pontocerebellar hypoplasia type 6. (25289895)
2014
9
Natural course of pontocerebellar hypoplasia type 2A. (24886362)
2014
10
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
11
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
12
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
13
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
14
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
15
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
16
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
17
Affective disorder associated with pontocerebellar hypoplasia. (23086315)
2012
18
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
19
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
20
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
21
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
22
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
23
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
24
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. (20952379)
2011
25
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? (21594990)
2011
26
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. (20956791)
2010
27
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. (20635367)
2010
28
Delayed gyration with pontocerebellar hypoplasia type 1. (19243903)
2010
29
Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma. (19644791)
2010
30
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
31
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. (19277761)
2009
32
Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox. (19359782)
2009
33
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. (19459882)
2009
34
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. (19302945)
2009
35
Pontocerebellar hypoplasia type 1. (18805371)
2008
36
Progress on pontocerebellar hypoplasia. (17710422)
2007
37
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (17847012)
2007
38
Pontocerebellar hypoplasia type 2: a neuropathological update. (17641900)
2007
39
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
40
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. (12548734)
2003
41
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. (12731647)
2003
42
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. (11952074)
2002
43
Fatal outcome in a case of pontocerebellar hypoplasia type 2. (10978619)
2000
44
Early fatal pontocerebellar hypoplasia in premature twin sisters. (11008260)
2000
45
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. (10814903)
2000
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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GO Terms for genes affiliated with Pontocerebellar Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1tRNA-type intron splice site recognition and cleavageGO:000037910.1TSEN2, TSEN34, TSEN54
2RNA phosphodiester bond hydrolysisGO:009050110.1TSEN2, TSEN34, TSEN54
3nuclear polyadenylation-dependent tRNA catabolic processGO:00710389.9EXOSC3, EXOSC8
4exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decayGO:00439289.7EXOSC3, EXOSC8
5gene expressionGO:00104679.6TSEN2, TSEN34, TSEN54
6tRNA splicing, via endonucleolytic cleavage and ligationGO:00063889.6CLP1, TSEN34, TSEN54

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