PCH
MCID: NNS061
MIFTS: 16

Non-Syndromic Pontocerebellar Hypoplasia (PCH)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards integrated aliases for Non-Syndromic Pontocerebellar Hypoplasia:

Name: Non-Syndromic Pontocerebellar Hypoplasia 58 6
Pontoneocerebllar Hypoplasia 58
Pontoneocerebellar Atrophy 58
Pch 58

Characteristics:

Orphanet epidemiological data:

58
non-syndromic pontocerebellar hypoplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA98523

Summaries for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards based summary : Non-Syndromic Pontocerebellar Hypoplasia, also known as pontoneocerebllar hypoplasia, is related to pontocerebellar hypoplasia and cerebellar hypoplasia. An important gene associated with Non-Syndromic Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include brain.

Related Diseases for Non-Syndromic Pontocerebellar Hypoplasia

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia 32.7 TSEN54 EXOSC3
2 cerebellar hypoplasia 29.5 TSEN54 EXOSC3
3 microcephaly 29.0 TSEN54 EXOSC3
4 paroxysmal cold hemoglobinuria 12.3
5 pontocerebellar hypoplasia, type 3 12.1
6 pontocerebellar hypoplasia, type 4 11.7
7 pontocerebellar hypoplasia, type 5 11.6
8 pontocerebellar hypoplasia, type 1b 11.4
9 pontocerebellar hypoplasia, type 2a 11.3
10 pontocerebellar hypoplasia, type 6 11.3
11 pontocerebellar hypoplasia, type 2b 11.3
12 pontocerebellar hypoplasia, type 2c 11.3
13 pontocerebellar hypoplasia, type 1a 11.2
14 blood group, globoside system 11.2
15 pontocerebellar hypoplasia, type 8 11.1
16 pontocerebellar hypoplasia, type 7 11.1
17 pontocerebellar hypoplasia, type 10 11.1
18 pontocerebellar hypoplasia, type 9 11.1
19 pontocerebellar hypoplasia, type 1c 11.1
20 pontocerebellar hypoplasia, type 11 11.1
21 pontocerebellar hypoplasia, type 1d 11.1
22 pontocerebellar hypoplasia, type 13 11.1
23 hemoglobinuria 10.4
24 palmoplantar keratoderma, punctate type ii 10.1
25 pulmonary venoocclusive disease 2, autosomal recessive 10.1
26 wiskott-aldrich syndrome 10.1
27 pulmonary hypertension, primary, 3 10.1
28 alacrima, achalasia, and mental retardation syndrome 10.1
29 spinal muscular atrophy 10.1
30 muscular atrophy 10.1
31 tsen54 pontocerebellar hypoplasia 10.1
32 cold agglutinin disease 10.1
33 punctate porokeratosis 10.1
34 spasticity 10.1
35 cerebellar malformation 10.1
36 microlissencephaly 10.1
37 rhombencephalosynapsis 10.1
38 pontocerebellar hypoplasia type 1 9.5 TSEN54 EXOSC3
39 pontocerebellar hypoplasia, type 2d 9.5 TSEN54 EXOSC3
40 anterior horn cell disease 9.5 TSEN54 EXOSC3
41 amyotrophic lateral sclerosis 1 9.4 TSEN54 EXOSC3

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



Diseases related to Non-Syndromic Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Non-Syndromic Pontocerebellar Hypoplasia

Drugs & Therapeutics for Non-Syndromic Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Pontocerebellar Hypoplasia

Genetic Tests for Non-Syndromic Pontocerebellar Hypoplasia

Anatomical Context for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Non-Syndromic Pontocerebellar Hypoplasia:

40
Brain

Publications for Non-Syndromic Pontocerebellar Hypoplasia

Variations for Non-Syndromic Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Non-Syndromic Pontocerebellar Hypoplasia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
2 EXOSC3 NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)SNV Likely pathogenic 129024 rs374550999 9:37784804-37784804 9:37784807-37784807

Expression for Non-Syndromic Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Non-Syndromic Pontocerebellar Hypoplasia.

Pathways for Non-Syndromic Pontocerebellar Hypoplasia

GO Terms for Non-Syndromic Pontocerebellar Hypoplasia

Cellular components related to Non-Syndromic Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 8.62 TSEN54 EXOSC3

Sources for Non-Syndromic 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
Content
Loading form....