PCH
MCID: PNT019
MIFTS: 41

Pontocerebellar Hypoplasia (PCH) malady

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

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NIH Rare Diseases:42 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 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, pons and brain.

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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Pontocerebellar Hypoplasia, Aliases & Descriptions:

Name: Pontocerebellar Hypoplasia 42 20 21
Congenital Pontocerebellar Hypoplasia 21
Pontoneocerebellar Hypoplasia 62
 
Opch 21
Pch 21


Classifications:



Related Diseases for Pontocerebellar Hypoplasia

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Diseases in the Pontocerebellar Hypoplasia Type 2d family:

Exosc3-Related Pontocerebellar Hypoplasia 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 9 Pontocerebellar Hypoplasia Type 2b
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 8 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 2a31.5TSEN54
2pontocerebellar hypoplasia type 2b31.1TSEN2, SEN2
3pontocerebellar hypoplasia type 2c31.1SEN3, TSEN34
4microcephaly30.1VRK1, RARS2, MDCMP, CASK, TSEN2, TSEN34
5muscular dystrophy29.9LAMA5, LAMA2, MDCMP
6mental retardation29.7MDCMP, CREB1, CASK
7pontocerebellar hypoplasia type 210.8
8pontocerebellar hypoplasia type 110.8
9pontocerebellar hypoplasia type 310.7
10pontocerebellar hypoplasia type 610.7
11pontocerebellar hypoplasia type 410.6
12exosc3-related pontocerebellar hypoplasia10.6
13pontocerebellar hypoplasia type 510.5
14pontocerebellar hypoplasia type 1a10.5
15pontocerebellar hypoplasia type 2d10.5
16pontocerebellar hypoplasia, type 810.5
17pontocerebellar hypoplasia, type 1010.5
18pontocerebellar hypoplasia type 710.5
19tsen54-related pontocerebellar hypoplasia10.4
20microcephaly pontocerebellar hypoplasia dyskinesia10.4
21pontocerebellar hypoplasia, type 910.4
22pontocerebellar hypoplasia, type 1c10.4
23mental retardation and microcephaly with pontine and cerebellar hypoplasia10.4
24paroxysmal cold hemoglobinuria10.4
25cerebellar hypoplasia10.3VLDLR
26spinal muscular atrophy10.3
27muscular atrophy10.3
28tetralogy of fallot10.3
29anterior horn cell disease10.3
30neuronitis10.3
31tsen2-related pontocerebellar hypoplasia10.3
32tsen34-related pontocerebellar hypoplasia10.3
33muscular dystrophy-dystroglycanopathy , type a, 410.2LAMA2
34hemoglobinuria10.2
35hereditary ataxia10.1
36motor neuron disease10.1
37lissencephaly10.1
38cerebritis10.1
39congenital muscular dystrophy10.1
40pcca-related propionic acidemia10.1
41ataxia10.1
42hypotonia10.1
43cortical dysplasia, complex, with other brain malformations 110.1
44respiratory failure9.9LAMA2, MDCMP
45adrenocortical carcinoma9.9TP53, CREB1

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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Drug clinical trials:

Search ClinicalTrials for Pontocerebellar Hypoplasia

Search NIH Clinical Center for Pontocerebellar Hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

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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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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

32
Cerebellum, Pons, Brain, Testes

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 77)
idTitleAuthorsYear
1
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
2
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. (24891912)
2014
3
Neuropathologic features of pontocerebellar hypoplasia type 6. (25289895)
2014
4
Natural course of pontocerebellar hypoplasia type 2A. (24886362)
2014
5
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
6
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
7
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
8
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
9
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
10
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
11
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
12
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. (23307886)
2013
13
Affective disorder associated with pontocerebellar hypoplasia. (23086315)
2012
14
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
15
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. (22544365)
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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Expression patterns in normal tissues for genes affiliated with Pontocerebellar Hypoplasia

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8LAMA5, CASK
29.6TP53, CREB1
3
Show member pathways
ATM Signaling Pathway37
9.6CREB1, TP53
49.6CREB1, TP53
5
Show member pathways
Proteogylcan syndecan-mediated signaling events37
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet