PCH
MCID: PNT019
MIFTS: 26

Pontocerebellar Hypoplasia (PCH) malady

Summaries for Pontocerebellar Hypoplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 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:63 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, 42NIH Rare Diseases, 20GeneTests, 60UMLS
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Aliases & Descriptions:

pontocerebellar hypoplasia 42 20 21
congenital pontocerebellar hypoplasia 21
pontoneocerebellar hypoplasia 60
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 Type 3
Pontocerebellar Hypoplasia Type 6 Pontocerebellar Hypoplasia Type 4
Pontocerebellar Hypoplasia Type 5 pontocerebellar hypoplasia
Pontocerebellar Hypoplasia Type 1 Pontocerebellar Hypoplasia Type 2
Tsen2-Related Pontocerebellar Hypoplasia Tsen34-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1a Pontocerebellar Hypoplasia Type 2d
Pontocerebellar Hypoplasia Type 2b Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia Type 2a Pontocerebellar Hypoplasia Type 2c
Pontocerebellar Hypoplasia Type 9 Pontocerebellar Hypoplasia Type 7

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly30.5VRK1, TSEN34, RARS2, TSEN54, CASK, LOC619409
2pontocerebellar hypoplasia type 2b30.4TSEN2, SEN2
3muscular dystrophy30.0LOC619409, LAMA5, LAMA2
4pontocerebellar hypoplasia type 310.5
5pontocerebellar hypoplasia type 410.5
6pontocerebellar hypoplasia type 610.5
7pontocerebellar hypoplasia type 110.5
8pontocerebellar hypoplasia, type 1b10.5
9pontocerebellar hypoplasia type 2a10.5
10pontocerebellar hypoplasia type 510.5
11pontocerebellar hypoplasia, type 810.5
12pontocerebellar hypoplasia type 210.4
13pontocerebellar hypoplasia type 1a10.4
14pontocerebellar hypoplasia type 2d10.4
15pontocerebellar hypoplasia type 710.4
16pontoneocerebellar hypoplasia10.4
17tsen54-related pontocerebellar hypoplasia10.4
18microcephaly pontocerebellar hypoplasia dyskinesia10.4
19pontocerebellar hypoplasia type 2c10.3
20mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
21neuronitis10.2
22muscular atrophy10.2
23tetralogy of fallot10.2
24anterior horn cell disease10.2
25spinal muscular atrophy10.2
26tsen2-related pontocerebellar hypoplasia10.2
27tsen34-related pontocerebellar hypoplasia10.2
28pontocerebellar hypoplasia type 910.2
29paroxysmal cold hemoglobinuria10.2
30hemoglobinuria10.1
31reye syndrome10.1
32cerebritis10.1
33lissencephaly10.1
34congenital muscular dystrophy10.1
35intellectual disability10.1
36motor neuron disease10.1
37pcca-related propionic acidemia10.1
38cortical dysplasia, complex, with other brain malformations 110.1
39progressive cerebello-cerebral atrophy10.1
40fukuyama type muscular dystrophy10.0LAMA2
41cerebellar hypoplasia10.0VLDLR
42mental retardation10.0LOC619409, CASK, CREB1

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



Diseases related to pontocerebellar hypoplasia

Clinical Features for Pontocerebellar Hypoplasia

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Drugs & Therapeutics for Pontocerebellar Hypoplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pontocerebellar Hypoplasia

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

32
Cerebellum, Brain, Pons

Animal Models for Pontocerebellar Hypoplasia or affiliated genes

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Publications for Pontocerebellar Hypoplasia

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Genetic Variations for Pontocerebellar Hypoplasia

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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

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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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
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9.4CASK, LAMA5, LAMA2
39.3LAMA5, LAMA2, TP53
4
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8.8CREB1, LAMA5, LAMA2, TP53
58.8CREB1, LAMA5, LAMA2, 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:0056069.7LAMA2, LAMA5
3nuclear matrixGO:0163639.3TP53, CHMP1A, CASK
4basement membraneGO:0056049.1LAMA2, LAMA5, CASK
5nucleolusGO:0057308.0TP53, TSEN54, TSEN2, TSEN34, VRK1, CREB1

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet