PCH
MCID: NNS061
MIFTS: 13

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 59 6
Pontoneocerebllar Hypoplasia 59
Pontoneocerebellar Atrophy 59
Pch 59

Characteristics:

Orphanet epidemiological data:

59
non-syndromic pontocerebellar hypoplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q04.3
Orphanet 59 ORPHA98523

Summaries for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards based summary : Non-Syndromic Pontocerebellar Hypoplasia, also known as pontoneocerebllar hypoplasia, is related to paroxysmal cold hemoglobinuria and pontocerebellar hypoplasia, type 3. 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

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:

41
Brain

Publications for Non-Syndromic Pontocerebellar Hypoplasia

Variations for Non-Syndromic Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Non-Syndromic Pontocerebellar Hypoplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSEN54 NM_207346.3(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 17:73518081-73518081 17:75522000-75522000

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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