PCH
MCID: PNT019
MIFTS: 40

Pontocerebellar Hypoplasia (PCH) malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
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Summaries for Pontocerebellar Hypoplasia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Pontocerebellar Hypoplasia, also known as congenital pontocerebellar hypoplasia, is related to pontocerebellar hypoplasia type 2a and pontocerebellar hypoplasia type 2b. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TSEN54 tRNA splicing endonuclease subunit), and among its related pathways are Syndecan-1-mediated signaling events and Signaling mediated by p38-alpha and p38-beta. Affiliated tissues include cerebellum, brain and pons.

Genetics Home Reference:21 Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.

Wikipedia:65 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by... more...

Aliases & Classifications for Pontocerebellar Hypoplasia

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21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 62UMLS
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Classifications:



Aliases & Descriptions:

pontocerebellar hypoplasia 43 20 21
congenital pontocerebellar hypoplasia 21
pontoneocerebellar hypoplasia 62
opch 21
pch 21


Related Diseases for Pontocerebellar Hypoplasia

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17GeneCards, 18GeneDecks
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Diseases in the Pontocerebellar Hypoplasia, Type 1b family:

Tsen54-Related Pontocerebellar Hypoplasia pontocerebellar hypoplasia
Pontocerebellar Hypoplasia Type 1 Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 3 Pontocerebellar Hypoplasia Type 4
Pontocerebellar Hypoplasia Type 5 Pontocerebellar Hypoplasia Type 6
Tsen2-Related Pontocerebellar Hypoplasia Tsen34-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1a Pontocerebellar Hypoplasia Type 2d
Pontocerebellar Hypoplasia, Type 9 Pontocerebellar Hypoplasia Type 2b
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia Type 2a
Pontocerebellar Hypoplasia Type 2c Pontocerebellar Hypoplasia Type 7

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 2a31.0TSEN54
2pontocerebellar hypoplasia type 2b30.6TSEN2, SEN2
3pontocerebellar hypoplasia type 2c30.6TSEN34, SEN3
4microcephaly30.5MDCMP, RARS2, VRK1, CASK, TSEN2, TSEN34
5muscular dystrophy30.1LAMA5, LAMA2, MDCMP
6mental retardation30.0CASK, CREB1, MDCMP
7pontocerebellar hypoplasia type 210.7
8pontocerebellar hypoplasia type 110.7
9pontocerebellar hypoplasia type 310.6
10pontocerebellar hypoplasia type 610.6
11pontocerebellar hypoplasia type 410.6
12pontocerebellar hypoplasia type 510.5
13pontocerebellar hypoplasia, type 1b10.5
14pontocerebellar hypoplasia, type 810.5
15pontocerebellar hypoplasia type 1a10.5
16pontocerebellar hypoplasia type 2d10.5
17pontocerebellar hypoplasia type 710.5
18tsen54-related pontocerebellar hypoplasia10.4
19microcephaly pontocerebellar hypoplasia dyskinesia10.4
20pontocerebellar hypoplasia, type 910.4
21pontocerebellar hypoplasia, type 2e10.4
22pontocerebellar hypoplasia, type 1010.3
23mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
24paroxysmal cold hemoglobinuria10.3
25neuronitis10.3
26muscular atrophy10.3
27tetralogy of fallot10.3
28anterior horn cell disease10.3
29spinal muscular atrophy10.3
30tsen2-related pontocerebellar hypoplasia10.3
31tsen34-related pontocerebellar hypoplasia10.3
32hemoglobinuria10.1
33cerebritis10.1
34lissencephaly10.1
35congenital muscular dystrophy10.1
36intellectual disability10.1
37motor neuron disease10.1
38pcca-related propionic acidemia10.1
39hypotonia10.1
40cortical dysplasia, complex, with other brain malformations 110.1
41cerebellar hypoplasia10.1VLDLR
42fukuyama type muscular dystrophy10.0LAMA2
43respiratory failure10.0MDCMP, LAMA2
44adrenocortical carcinoma10.0CREB1, TP53

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pontocerebellar Hypoplasia

Search NIH Clinical Center for Pontocerebellar Hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

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20GeneTests
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Genetic tests related to Pontocerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia20 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

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33MalaCards
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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

33
Cerebellum, Brain, Pons, Testes

Animal Models for Pontocerebellar Hypoplasia or affiliated genes

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Publications for Pontocerebellar Hypoplasia

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52PubMed
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Articles related to Pontocerebellar Hypoplasia:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
2
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
3
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
4
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
5
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
6
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
7
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
8
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. (23307886)
2013
9
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. (23883322)
2013
10
Affective disorder associated with pontocerebellar hypoplasia. (23086315)
2012
11
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
12
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. (22544365)
2012
13
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. (21880448)
2012
14
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
15
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
16
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
17
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
18
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
19
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. (20952379)
2011
20
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? (21594990)
2011
21
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. (21215917)
2011
22
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. (20956791)
2010
23
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. (20635367)
2010
24
Delayed gyration with pontocerebellar hypoplasia type 1. (19243903)
2010
25
Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma. (19644791)
2010
26
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? (20803644)
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
Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). (2315227)
1990

Variations for Pontocerebellar Hypoplasia

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Expression for genes affiliated with Pontocerebellar Hypoplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pontocerebellar Hypoplasia

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Pathways for genes affiliated with Pontocerebellar Hypoplasia

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 30KEGG
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Pathways related to Pontocerebellar Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8LAMA5, CASK
29.6TP53, CREB1
3
Show member pathways
ATM Signaling Pathway38
9.6CREB1, TP53
49.6CREB1, TP53
5
Show member pathways
Proteogylcan syndecan-mediated signaling events38
9.4CASK, LAMA2, LAMA5
69.3TP53, LAMA5, LAMA2
7
Show member pathways
8.9CREB1, LAMA2, LAMA5, TP53
88.9CREB1, LAMA2, LAMA5, TP53

Compounds for genes affiliated with Pontocerebellar Hypoplasia

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GO Terms for genes affiliated with Pontocerebellar Hypoplasia

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16Gene Ontology
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Cellular components related to Pontocerebellar Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA-intron endonuclease complexGO:00021410.0TSEN34, TSEN2
2laminin-1 complexGO:0056069.6LAMA2, LAMA5
3nuclear matrixGO:0163639.4CASK, CHMP1A, TP53
4basement membraneGO:0056049.1CASK, LAMA2, LAMA5
5nucleolusGO:0057308.2EXOSC3, VRK1, CREB1, CASK, TSEN2, TSEN34

Biological processes related to Pontocerebellar Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA splicing, via endonucleolytic cleavage and ligationGO:00638810.1TSEN2, TSEN54
2regulation of cell adhesionGO:0301559.7LAMA2, LAMA5
3regulation of embryonic developmentGO:0459959.6LAMA2, LAMA5
4mRNA processingGO:0063979.5TSEN2, TSEN34, TSEN54

Molecular functions related to Pontocerebellar Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA-intron endonuclease activityGO:00021310.0TSEN2, TSEN34

Products for genes affiliated with Pontocerebellar Hypoplasia

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Sources for Pontocerebellar Hypoplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet