MCID: PNT010
MIFTS: 35

Pontocerebellar Hypoplasia Type 1

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

Aliases & Classifications for Pontocerebellar Hypoplasia Type 1

MalaCards integrated aliases for Pontocerebellar Hypoplasia Type 1:

Name: Pontocerebellar Hypoplasia Type 1 53 59 73
Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy 53
Pontocerebellar Hypoplasia with Anterior Horn Cell Disease 53
Hypoplasia, Pontocerebellar, Type 1 40
Norman Disease 59
Pch1 59

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

Classifications:



External Ids:

Orphanet 59 ORPHA2254
MESH via Orphanet 45 C548069
UMLS via Orphanet 74 C1843504
ICD10 via Orphanet 34 Q04.3
UMLS 73 C1843504

Summaries for Pontocerebellar Hypoplasia Type 1

NIH Rare Diseases : 53 Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, sends signals between the cerebellum and the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells, which are responsible for helping the spinal cord send signals to the muscles. Problems with the anterior horn cells cause severe muscle weakness. PCH1 is caused by mutations to EXOSC3, TSEN54, RARS2, and VRK1. The disease is inherited in an autosomal recessive manner. Diagnosis of PCH1 is based on brain imaging and tests to rule out other causes of problems with brain development. Treatment for PCH1 is aimed at relieving the symptoms of the disease. Most children with PCH1 pass away in infancy or early childhood.

MalaCards based summary : Pontocerebellar Hypoplasia Type 1, also known as pontocerebellar hypoplasia with infantile spinal muscular atrophy, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1a, and has symptoms including ataxia, muscular fasciculation and muscle weakness. An important gene associated with Pontocerebellar Hypoplasia Type 1 is EXOSC3 (Exosome Component 3), and among its related pathways/superpathways are Gene Expression and Unfolded Protein Response (UPR). Affiliated tissues include brain, pons and testes, and related phenotype is Lamellipodia cells.

Related Diseases for Pontocerebellar Hypoplasia Type 1

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia Type 1:



Diseases related to Pontocerebellar Hypoplasia Type 1

Symptoms & Phenotypes for Pontocerebellar Hypoplasia Type 1

UMLS symptoms related to Pontocerebellar Hypoplasia Type 1:


ataxia, muscular fasciculation, muscle weakness, weakness

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.8 EXOSC3 EXOSC8 TSEN54

Drugs & Therapeutics for Pontocerebellar Hypoplasia Type 1

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia Type 1

Genetic Tests for Pontocerebellar Hypoplasia Type 1

Anatomical Context for Pontocerebellar Hypoplasia Type 1

MalaCards organs/tissues related to Pontocerebellar Hypoplasia Type 1:

41
Brain, Pons, Testes, Spinal Cord, Cerebellum

Publications for Pontocerebellar Hypoplasia Type 1

Articles related to Pontocerebellar Hypoplasia Type 1:

(show all 13)
# Title Authors Year
1
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. ( 29316359 )
2018
2
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. ( 29656927 )
2018
3
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. ( 24524299 )
2014
4
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. ( 24891912 )
2014
5
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. ( 23284067 )
2013
6
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. ( 23883322 )
2013
7
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. ( 21468723 )
2011
8
Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement. ( 20558670 )
2010
9
Delayed gyration with pontocerebellar hypoplasia type 1. ( 19243903 )
2010
10
Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox. ( 19359782 )
2009
11
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. ( 19302945 )
2009
12
Pontocerebellar hypoplasia type 1. ( 18805371 )
2008
13
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. ( 12731647 )
2003

Variations for Pontocerebellar Hypoplasia Type 1

Expression for Pontocerebellar Hypoplasia Type 1

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia Type 1.

Pathways for Pontocerebellar Hypoplasia Type 1

GO Terms for Pontocerebellar Hypoplasia Type 1

Cellular components related to Pontocerebellar Hypoplasia Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.56 EXOSC3 EXOSC8 TSEN54 VRK1
2 exosome (RNase complex) GO:0000178 9.16 EXOSC3 EXOSC8
3 cytoplasmic exosome (RNase complex) GO:0000177 8.96 EXOSC3 EXOSC8
4 nuclear exosome (RNase complex) GO:0000176 8.62 EXOSC3 EXOSC8

Biological processes related to Pontocerebellar Hypoplasia Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.43 EXOSC3 EXOSC8
2 regulation of mRNA stability GO:0043488 9.4 EXOSC3 EXOSC8
3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.37 EXOSC3 EXOSC8
4 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3-5 GO:0034427 9.32 EXOSC3 EXOSC8
5 U4 snRNA 3-end processing GO:0034475 9.26 EXOSC3 EXOSC8
6 exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.16 EXOSC3 EXOSC8
7 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 8.96 EXOSC3 EXOSC8
8 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 8.62 EXOSC3 EXOSC8

Molecular functions related to Pontocerebellar Hypoplasia Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exoribonuclease activity GO:0004532 8.62 EXOSC3 EXOSC8

Sources for Pontocerebellar Hypoplasia Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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