MCID: EXS023
MIFTS: 10

Exosc3 Pontocerebellar Hypoplasia

Aliases & Classifications for Exosc3 Pontocerebellar Hypoplasia

MalaCards integrated aliases for Exosc3 Pontocerebellar Hypoplasia:

Name: Exosc3 Pontocerebellar Hypoplasia 25
Pontocerebellar Hypoplasia Type 1b 25
Pch1b 25

Summaries for Exosc3 Pontocerebellar Hypoplasia

MalaCards based summary : Exosc3 Pontocerebellar Hypoplasia, also known as pontocerebellar hypoplasia type 1b, is related to pontocerebellar hypoplasia, type 1b and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Exosc3 Pontocerebellar Hypoplasia is EXOSC3 (Exosome Component 3). Affiliated tissues include cerebellum.

GeneReviews: NBK236968

Related Diseases for Exosc3 Pontocerebellar Hypoplasia

Diseases related to Exosc3 Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 1b 11.4
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 scoliosis 10.2
4 pontocerebellar hypoplasia 10.2
5 dystonia 10.2
6 hypotonia 10.2
7 spasticity 10.2
8 autosomal recessive disease 10.1
9 cerebellar hypoplasia 10.1
10 pontocerebellar hypoplasia type 1 10.1

Graphical network of the top 20 diseases related to Exosc3 Pontocerebellar Hypoplasia:



Diseases related to Exosc3 Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Exosc3 Pontocerebellar Hypoplasia

Drugs & Therapeutics for Exosc3 Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Exosc3 Pontocerebellar Hypoplasia

Genetic Tests for Exosc3 Pontocerebellar Hypoplasia

Anatomical Context for Exosc3 Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Exosc3 Pontocerebellar Hypoplasia:

40
Cerebellum

Publications for Exosc3 Pontocerebellar Hypoplasia

Articles related to Exosc3 Pontocerebellar Hypoplasia:

(show all 26)
# Title Authors PMID Year
1
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. 61 25
28687512 2017
2
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 25
31770597 2020
3
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. 25
30986545 2020
4
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. 25
29656927 2018
5
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. 25
29903031 2018
6
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
7
[Familial EXOSC3-related pontocerebellar hypoplasia]. 25
27876572 2017
8
Preterm birth and cerebellar neuropathology. 25
27161081 2016
9
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. 25
25149867 2014
10
Pontocerebellar hypoplasia. 25
24924738 2014
11
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. 25
24524299 2014
12
Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. 25
23883322 2013
13
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 25
23975261 2013
14
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 25
23564332 2013
15
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. 25
23284067 2013
16
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. 25
22544365 2012
17
Brain injury in premature infants: a complex amalgam of destructive and developmental disturbances. 25
19081519 2009
18
Genotypically defined lissencephalies show distinct pathologies. 25
16215456 2005
19
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
20
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. 61
33462000 2021
21
A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. 61
32645003 2020
22
The RNA Exosome and Human Disease. 61
31768969 2020
23
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 61
30141626 2018
24
The RNA exosome and RNA exosome-linked disease. 61
29093021 2018
25
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. 61
27777260 2017
26
EXOSC3 Pontocerebellar Hypoplasia 61
25144110 2014

Variations for Exosc3 Pontocerebellar Hypoplasia

Expression for Exosc3 Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Exosc3 Pontocerebellar Hypoplasia.

Pathways for Exosc3 Pontocerebellar Hypoplasia

GO Terms for Exosc3 Pontocerebellar Hypoplasia

Sources for Exosc3 Pontocerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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