MCID: TSN004
MIFTS: 15

Tsen54 Pontocerebellar Hypoplasia

Aliases & Classifications for Tsen54 Pontocerebellar Hypoplasia

MalaCards integrated aliases for Tsen54 Pontocerebellar Hypoplasia:

Name: Tsen54 Pontocerebellar Hypoplasia 24

Summaries for Tsen54 Pontocerebellar Hypoplasia

MalaCards based summary : Tsen54 Pontocerebellar Hypoplasia is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 2e. An important gene associated with Tsen54 Pontocerebellar Hypoplasia is TSEN2 (TRNA Splicing Endonuclease Subunit 2), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include cerebellum.

GeneReviews: NBK9673

Related Diseases for Tsen54 Pontocerebellar Hypoplasia

Graphical network of the top 20 diseases related to Tsen54 Pontocerebellar Hypoplasia:



Diseases related to Tsen54 Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Tsen54 Pontocerebellar Hypoplasia

Drugs & Therapeutics for Tsen54 Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Tsen54 Pontocerebellar Hypoplasia

Genetic Tests for Tsen54 Pontocerebellar Hypoplasia

Anatomical Context for Tsen54 Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Tsen54 Pontocerebellar Hypoplasia:

40
Cerebellum

Publications for Tsen54 Pontocerebellar Hypoplasia

Articles related to Tsen54 Pontocerebellar Hypoplasia:

(show all 16)
# Title Authors PMID Year
1
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. 24
29903031 2018
2
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
3
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
4
Preterm birth and cerebellar neuropathology. 24
27161081 2016
5
Natural course of pontocerebellar hypoplasia type 2A. 24
24886362 2014
6
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 24
20952379 2011
7
Cerebellum of the premature infant: rapidly developing, vulnerable, clinically important. 24
19745085 2009
8
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 24
18711368 2008
9
Pontocerebellar hypoplasia type 2: a neuropathological update. 24
17641900 2007
10
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. 24
17320436 2007
11
Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site. 24
16710424 2006
12
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? 24
16470708 2006
13
Genotypically defined lissencephalies show distinct pathologies. 24
16215456 2005
14
Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. 24
15109492 2004
15
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. 24
7854532 1995
16
TSEN54 Pontocerebellar Hypoplasia 61
20301773 2009

Variations for Tsen54 Pontocerebellar Hypoplasia

Expression for Tsen54 Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Tsen54 Pontocerebellar Hypoplasia.

Pathways for Tsen54 Pontocerebellar Hypoplasia

Pathways related to Tsen54 Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 TSEN54 TSEN34 TSEN2
2
Show member pathways
11.5 TSEN54 TSEN34 TSEN2
3
Show member pathways
10.4 TSEN54 TSEN34 TSEN2

GO Terms for Tsen54 Pontocerebellar Hypoplasia

Cellular components related to Tsen54 Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.13 TSEN54 TSEN34 TSEN2
2 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN54 TSEN34 TSEN2

Biological processes related to Tsen54 Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.43 TSEN54 TSEN34 TSEN2
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.4 TSEN34 TSEN2
3 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.37 TSEN34 TSEN2
4 tRNA processing GO:0008033 9.33 TSEN54 TSEN34 TSEN2
5 RNA phosphodiester bond hydrolysis GO:0090501 9.32 TSEN34 TSEN2
6 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.13 TSEN54 TSEN34 TSEN2
7 tRNA-type intron splice site recognition and cleavage GO:0000379 8.8 TSEN54 TSEN34 TSEN2

Molecular functions related to Tsen54 Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.16 TSEN34 TSEN2
2 nuclease activity GO:0004518 8.96 TSEN34 TSEN2
3 tRNA-intron endonuclease activity GO:0000213 8.62 TSEN34 TSEN2

Sources for Tsen54 Pontocerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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