MCID: PNT019
MIFTS: 39

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 11 46 23 24 13 37
Pch 11 24
Congenital Pontocerebellar Hypoplasia 24
 
Pontoneocerebellar Hypoplasia 66
Opch 24

Classifications:



External Ids:

Disease Ontology11 DOID:0060264
SNOMED-CT60 45163000
MeSH37 C580383
UMLS66 C0266468

Summaries for Pontocerebellar Hypoplasia

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NIH Rare Diseases:46 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 4 and pontocerebellar hypoplasia, type 6. 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, pons and cerebellum.

Genetics Home Reference:24 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:69 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 57)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 412.5
2pontocerebellar hypoplasia, type 612.4
3pontocerebellar hypoplasia, type 312.4
4pontocerebellar hypoplasia type 512.4
5pontocerebellar hypoplasia type 2a12.4
6pontocerebellar hypoplasia type 2d12.4
7pontocerebellar hypoplasia type 112.4
8pontocerebellar hypoplasia, type 2e12.4
9pontocerebellar hypoplasia, type 812.3
10pontocerebellar hypoplasia, type 1012.3
11pontocerebellar hypoplasia type 1a12.3
12pontocerebellar hypoplasia type 2b12.3
13pontocerebellar hypoplasia type 2c12.3
14pontocerebellar hypoplasia, type 912.3
15pontocerebellar hypoplasia, type 1b12.3
16pontocerebellar hypoplasia, type 1c12.2
17pontocerebellar hypoplasia, type 712.2
18exosc3-related pontocerebellar hypoplasia12.2
19tsen54-related pontocerebellar hypoplasia12.2
20microcephaly pontocerebellar hypoplasia dyskinesia12.0
21cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation12.0
22tsen2-related pontocerebellar hypoplasia12.0
23tsen34-related pontocerebellar hypoplasia12.0
24paroxysmal cold hemoglobinuria11.6
25mental retardation and microcephaly with pontine and cerebellar hypoplasia11.3
26x-linked intellectual disability, najm type11.1
27cortical dysplasia, complex, with other brain malformations 111.0
28microcephaly10.3
29spinal muscular atrophy10.1
30muscular atrophy10.1
31neuronitis10.1
32glycogen storage disease ii10.1TSEN54, VRK1
33tetralogy of fallot10.0
34anterior horn cell disease10.0
35hereditary ataxia9.9
36motor neuron disease9.9
37lissencephaly9.9
38epilepsy9.9
39cerebritis9.9
40dystonia9.9
41axonal neuropathy9.9
42malignant hyperthermia9.9
43neuropathy9.9
44muscular dystrophy9.9
45hoyeraal hreidarsson syndrome9.9
46hydrops fetalis9.9
47cardiomyopathy9.9
48intellectual disability9.9
49primary microcephaly9.9
50ataxia9.9

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 Hypoplasia23 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

34
Brain, Pons, Cerebellum, Bone marrow, Testes, Bone

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 93)
idTitleAuthorsYear
1
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. (27588454)
2016
2
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. (27370523)
2016
3
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? (27570394)
2016
4
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. (26805434)
2016
5
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. (27392077)
2016
6
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. (26951492)
2016
7
Loss of PCLO function underlies pontocerebellar hypoplasia type III. (25832664)
2015
8
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. (25809939)
2015
9
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-I^ precursor protein-dependent mechanism. (25609612)
2015
10
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
11
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. (24891912)
2014
12
Pontocerebellar hypoplasia. (24924738)
2014
13
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. (23284067)
2013
14
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
15
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (22569581)
2013
16
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. (23290020)
2013
17
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. (22532556)
2013
18
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. (23883322)
2013
19
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (22086604)
2012
20
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. (22544365)
2012
21
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. (21880448)
2012
22
Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype? (23072181)
2012
23
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. (21749694)
2011
24
TSEN54 mutations cause pontocerebellar hypoplasia type 5. (21368912)
2011
25
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. (21994138)
2011
26
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. (21824568)
2011
27
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (21383226)
2011
28
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. (21215917)
2011
29
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. (20956791)
2010
30
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. (20635367)
2010
31
Delayed gyration with pontocerebellar hypoplasia type 1. (19243903)
2010
32
Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma. (19644791)
2010
33
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? (20803644)
2010
34
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. (19459882)
2009
35
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. (19302945)
2009
36
Pontocerebellar hypoplasia type 1. (18805371)
2008
37
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (18711368)
2008
38
Hypotonia, weakness, and pontocerebellar hypoplasia in siblings. (19073313)
2008
39
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (17847012)
2007
40
Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall. (16490996)
2006
41
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
42
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. (12548734)
2003
43
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. (11952074)
2002
44
Pontocerebellar hypoplasia in two siblings with dysmorphic features. (11913577)
2002
45
Fatal outcome in a case of pontocerebellar hypoplasia type 2. (10978619)
2000
46
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. (10814903)
2000
47
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. (10220864)
1999
48
MR findings in pontocerebellar hypoplasia. (9662582)
1998
49
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. (9134193)
1997
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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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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Cellular components related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tRNA-intron endonuclease complexGO:00002149.9CLP1, TSEN2, TSEN34, TSEN54
2exosome (RNase complex)GO:00001789.8EXOSC3, EXOSC8
3nuclear exosome (RNase complex)GO:00001769.8EXOSC3, EXOSC8
4cytoplasmic exosome (RNase complex)GO:00001779.8EXOSC3, EXOSC8
5nucleolusGO:00057308.2EXOSC3, EXOSC8, TSEN2, TSEN34, TSEN54, VRK1
6nucleoplasmGO:00056547.7CLP1, EXOSC3, EXOSC8, TSEN2, TSEN34, TSEN54
7cytosolGO:00058296.5AMPD2, EXOSC3, EXOSC8, PCLO, SEPSECS, VPS53

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1tRNA-type intron splice site recognition and cleavageGO:000037910.1TSEN2, TSEN34, TSEN54
2exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:00004679.9EXOSC3, EXOSC8
3nuclear polyadenylation-dependent tRNA catabolic processGO:00710389.9EXOSC3, EXOSC8
4nuclear polyadenylation-dependent rRNA catabolic processGO:00710359.9EXOSC3, EXOSC8
5U4 snRNA 3-end processingGO:00344759.9EXOSC3, EXOSC8
6mRNA processingGO:00063979.8TSEN2, TSEN34, TSEN54
7RNA phosphodiester bond hydrolysis, endonucleolyticGO:00905029.6TSEN2, TSEN34, TSEN54
8tRNA splicing, via endonucleolytic cleavage and ligationGO:00063889.5CLP1, TSEN2, TSEN34, TSEN54
9exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decayGO:00439289.3EXOSC3, EXOSC8
10nuclear-transcribed mRNA catabolic process, exonucleolytic, 3-5GO:00344279.2EXOSC3, EXOSC8

Molecular functions related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lyase activityGO:00168299.9TSEN2, TSEN34
2tRNA-intron endonuclease activityGO:00002139.8TSEN2, TSEN34, TSEN54
3exoribonuclease activityGO:00045329.0EXOSC3, EXOSC8

Sources for Pontocerebellar Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet