MCID: TSN003
MIFTS: 20

Tsen54-Related Pontocerebellar Hypoplasia

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tsen54-Related Pontocerebellar Hypoplasia

MalaCards integrated aliases for Tsen54-Related Pontocerebellar Hypoplasia:

Name: Tsen54-Related Pontocerebellar Hypoplasia 24

Classifications:



Summaries for Tsen54-Related Pontocerebellar Hypoplasia

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

GeneReviews: NBK9673

Related Diseases for Tsen54-Related Pontocerebellar Hypoplasia

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia, Type 13 Exosc3-Related Pontocerebellar Hypoplasia
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1

Diseases related to Tsen54-Related Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia 29.2 TSEN54 TSEN34 TSEN2
2 pontocerebellar hypoplasia, type 2a 29.1 TSEN54 TSEN34 TSEN2
3 pontocerebellar hypoplasia, type 2e 29.1 TSEN54 TSEN34 TSEN2
4 pontocerebellar hypoplasia, type 4 10.3
5 pontocerebellar hypoplasia, type 5 10.3
6 pontocerebellar hypoplasia, type 2b 10.3
7 pontocerebellar hypoplasia, type 2c 10.3
8 alkuraya-kucinskas syndrome 10.3
9 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
10 sleep apnea 10.3
11 congenital amyoplasia 10.3
12 polyhydramnios 9.4 TSEN54 TSEN34
13 pontocerebellar hypoplasia, type 6 9.1 TSEN54 TSEN34 TSEN2
14 hemoglobin h disease 9.0 TSEN54 TSEN34 TSEN2
15 microcephaly 8.8 TSEN54 TSEN34 TSEN2

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



Diseases related to Tsen54-Related Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Tsen54-Related Pontocerebellar Hypoplasia

Drugs & Therapeutics for Tsen54-Related Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Tsen54-Related Pontocerebellar Hypoplasia

Genetic Tests for Tsen54-Related Pontocerebellar Hypoplasia

Anatomical Context for Tsen54-Related Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Tsen54-Related Pontocerebellar Hypoplasia:

40
Testes, Eye

Publications for Tsen54-Related Pontocerebellar Hypoplasia

Articles related to Tsen54-Related Pontocerebellar Hypoplasia:

(show all 23)
# Title Authors PMID Year
1
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. 24
23284067 2013
2
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. 24
23023333 2012
3
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. 24
22544365 2012
4
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? 24
21594990 2011
5
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 24
20952379 2011
6
Midbrain-hindbrain involvement in lissencephalies. 24
19020296 2009
7
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 24
18711368 2008
8
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). 24
17825555 2008
9
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. 24
17847012 2007
10
Pontocerebellar hypoplasia type 2: a neuropathological update. 24
17641900 2007
11
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. 24
17320436 2007
12
Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site. 24
16710424 2006
13
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? 24
16470708 2006
14
Genotypically defined lissencephalies show distinct pathologies. 24
16215456 2005
15
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 24
16080122 2005
16
Disruption of cerebellar development: potential complication of extreme prematurity. 24
16091510 2005
17
Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. 24
15109492 2004
18
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. 24
12771259 2003
19
Early fatal pontocerebellar hypoplasia in premature twin sisters. 24
11008260 2000
20
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. 24
7854532 1995
21
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. 24
8480512 1993
22
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
23
TSEN54-Related Pontocerebellar Hypoplasia 61
20301773 2009

Variations for Tsen54-Related Pontocerebellar Hypoplasia

Expression for Tsen54-Related Pontocerebellar Hypoplasia

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

Pathways for Tsen54-Related Pontocerebellar Hypoplasia

Pathways related to Tsen54-Related 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
11.17 TSEN54 TSEN34 TSEN2
3
Show member pathways
10.52 TSEN54 TSEN34

GO Terms for Tsen54-Related Pontocerebellar Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.54 TSEN54 TSEN34 TSEN2
2 tRNA processing GO:0008033 9.5 TSEN54 TSEN34 TSEN2
3 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.43 TSEN54 TSEN34 TSEN2
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.4 TSEN34 TSEN2
5 RNA phosphodiester bond hydrolysis GO:0090501 9.33 TSEN54 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-Related Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.26 TSEN34 TSEN2
2 nuclease activity GO:0004518 9.16 TSEN34 TSEN2
3 endonuclease activity GO:0004519 8.96 TSEN34 TSEN2
4 tRNA-intron endonuclease activity GO:0000213 8.8 TSEN54 TSEN34 TSEN2

Sources for Tsen54-Related 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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