PCH
MCID: PNT019
MIFTS: 32

Pontocerebellar Hypoplasia (PCH) malady

Summaries for Pontocerebellar Hypoplasia

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43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 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 microcephaly 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 Non-integrin membrane-ECM interactions. Affiliated tissues include brain, cerebellum 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:64 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, 61UMLS
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Aliases & Descriptions:

pontocerebellar hypoplasia 43 20 21
congenital pontocerebellar hypoplasia 21
pontoneocerebellar hypoplasia 61
opch 21
pch 21


Related Diseases for Pontocerebellar Hypoplasia

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17GeneCards, 18GeneDecks
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Diseases related to Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly30.5VRK1, TSEN34, RARS2, TSEN54, CASK, LOC619409
2pontocerebellar hypoplasia type 2b30.4TSEN2, SEN2
3cerebellar hypoplasia30.1VLDLR
4mental retardation30.1LOC619409, CASK, CREB1
5pontoneocerebellar hypoplasia10.6
6pontocerebellar hypoplasia type 310.6
7pontocerebellar hypoplasia type 410.6
8pontocerebellar hypoplasia type 610.5
9microcephaly pontocerebellar hypoplasia dyskinesia10.5
10pontocerebellar hypoplasia type 110.5
11pontocerebellar hypoplasia, type 1b10.5
12pontocerebellar hypoplasia type 2a10.5
13pontocerebellar hypoplasia type 510.5
14pontocerebellar hypoplasia, type 810.5
15pontocerebellar hypoplasia type 210.4
16pontocerebellar hypoplasia type 1a10.4
17pontocerebellar hypoplasia type 2d10.4
18pontocerebellar hypoplasia type 710.4
19tsen54-related pontocerebellar hypoplasia10.4
20paroxysmal cold hemoglobinuria10.3
21micro syndrome10.3
22pontocerebellar hypoplasia type 2c10.3
23mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
24pontocerebellar hypoplasia type 910.3
25muscular atrophy10.2
26anterior horn cell disease10.2
27spinal muscular atrophy10.2
28tsen2-related pontocerebellar hypoplasia10.2
29tsen34-related pontocerebellar hypoplasia10.2
30hemoglobinuria10.1
31reye syndrome10.1
32lissencephaly10.1
33muscular dystrophy, congenital, merosin-positive10.1
34pcca-related propionic acidemia10.1
35hypotonia10.1
36cortical dysplasia, complex, with other brain malformations 110.1
37progressive cerebello-cerebral atrophy10.1
38fukuyama type muscular dystrophy10.0LAMA2
39muscular dystrophy10.0LOC619409, LAMA5, LAMA2

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



Diseases related to pontocerebellar hypoplasia

Clinical Features for Pontocerebellar Hypoplasia

Drugs & Therapeutics for Pontocerebellar Hypoplasia

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pontocerebellar Hypoplasia

Drug clinical trials:

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Search NIH Clinical Center for Pontocerebellar Hypoplasia

Search CenterWatch for Pontocerebellar Hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

Sources:
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
Brain, Cerebellum, Pons

Animal Models for Pontocerebellar Hypoplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pontocerebellar Hypoplasia

Sources:
51PubMed
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Articles related to Pontocerebellar Hypoplasia:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. (23177318)
2013
2
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
3
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
4
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. (23686794)
2013
5
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
6
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. (23307886)
2013
7
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. (23883322)
2013
8
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. (24047924)
2013
9
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
10
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. (22544365)
2012
11
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. (21880448)
2012
12
Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype? (23072181)
2012
13
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
14
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
15
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
16
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
17
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
18
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. (20952379)
2011
19
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. (21215917)
2011
20
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia. (21273289)
2011
21
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. (20635367)
2010
22
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? (20803644)
2010
23
Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement. (20558670)
2010
24
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
25
Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox. (19359782)
2009
26
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. (19459882)
2009
27
Pontocerebellar hypoplasia type 1. (18805371)
2008
28
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (18711368)
2008
29
Hypotonia, weakness, and pontocerebellar hypoplasia in siblings. (19073313)
2008
30
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). (17825555)
2008
31
Progress on pontocerebellar hypoplasia. (17710422)
2007
32
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (17847012)
2007
33
Pontocerebellar hypoplasia type 2: a neuropathological update. (17641900)
2007
34
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. (17320436)
2007
35
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
36
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. (12548734)
2003
37
Pontocerebellar hypoplasia in two siblings with dysmorphic features. (11913577)
2002
38
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa. (12021950)
2002
39
Fatal outcome in a case of pontocerebellar hypoplasia type 2. (10978619)
2000
40
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. (10814903)
2000
41
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. (10220864)
1999
42
Familial pontocerebellar hypoplasia type I with anterior horn cell disease. (10727190)
1999
43
Pontocerebellar hypoplasia associated with respiratory-chain defects. (10401692)
1999
44
MR findings in pontocerebellar hypoplasia. (9662582)
1998
45
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. (9134193)
1997
46
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases. (9295852)
1997
47
Lissencephaly with pontocerebellar hypoplasia. (8734030)
1996
48
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. (7854532)
1995
49
TSEN54-Related Pontocerebellar Hypoplasia (20301773)
1993
50
Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. (874513)
1977

Genetic Variations for Pontocerebellar Hypoplasia

Expression for genes affiliated with Pontocerebellar Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Pathways related to Pontocerebellar Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CASK, LAMA5
2
Hide members
9.4CASK, LAMA5, LAMA2
39.3LAMA5, LAMA2, TP53
4
Hide members
8.8CREB1, LAMA5, LAMA2, TP53
58.8CREB1, LAMA5, LAMA2, TP53

Compounds for genes affiliated with Pontocerebellar Hypoplasia

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:00021410.0TSEN2, TSEN34
2laminin-1 complexGO:0056069.7LAMA5, LAMA2
3nuclear matrixGO:0163639.3TP53, CHMP1A, CASK
4basement membraneGO:0056049.1CASK, LAMA5, LAMA2
5nucleolusGO:0057308.0TSEN2, CASK, EXOSC3, CREB1, VRK1, TSEN34

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

idNameGO IDScoreTop Affiliating Genes
1regulation of embryonic developmentGO:0459959.8LAMA2, LAMA5
2tRNA splicing, via endonucleolytic cleavage and ligationGO:0063889.7TSEN54, TSEN2

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet