PCH5
MCID: PNT046
MIFTS: 30

Pontocerebellar Hypoplasia, Type 5 (PCH5)

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 5

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 5:

Name: Pontocerebellar Hypoplasia, Type 5 56
Pontocerebellar Hypoplasia Type 5 56 12 52 58 73 29 6 15
Olivopontocerebellar Hypoplasia, Fetal-Onset 56 73 43 71
Pch5 56 58 73
Olivopontocerebellar Hypoplasia Fetal-Onset 52
Fetal-Onset Olivopontocerebellar Hypoplasia 58
Hypoplasia, Pontocerebellar, Type 5 39
Pontocerebellar Hypoplasia 5 73

Characteristics:

Orphanet epidemiological data:

58
pontocerebellar hypoplasia type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in neonatal period
one family has been reported (last curated february 2015)


HPO:

31
pontocerebellar hypoplasia, type 5:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060274
OMIM 56 610204
OMIM Phenotypic Series 56 PS607596
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C1857762
Orphanet 58 ORPHA166068
MedGen 41 C1857762
UMLS 71 C1857762

Summaries for Pontocerebellar Hypoplasia, Type 5

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166068 Definition Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures -like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Epidemiology PCH5 is reported in 3 siblings to date. Clinical description PCH5, clinically resembling PCH4 (see this term), is characterized by fetal onset of clonus or seizure-like episodes, microcephaly , cerebellar hypoplasia persisting in infancy and microencephaly leading to early postnatal death. Etiology PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene . PCH5 transmission is autosomal recessive . Diagnostic methods Clinically similar to PCH4, PCH5 is demonstrated on autopsy. MRI demonstrates inferior olivary dysplasia, and pontocerebellar hypoplasia with the vermis much more degenerated than cerebellar hemispheres. Pathological findings show and increased degeneration with Purkinje and granule cells in the vermis. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonic assessment of cerebellar width at 16-18 weeks gestation. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 5, also known as pontocerebellar hypoplasia type 5, is related to pontocerebellar hypoplasia, type 4 and pontocerebellar hypoplasia, type 2a. An important gene associated with Pontocerebellar Hypoplasia, Type 5 is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include cerebellum, brain and pons, and related phenotypes are seizures and microcephaly

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has material basis in autosomal recessive inheritance of mutation in the TSEN54 gene.

OMIM : 56 Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem (summary by Patel et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia, see PCH1 (607596). (610204)

UniProtKB/Swiss-Prot : 73 Pontocerebellar hypoplasia 5: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum.

Related Diseases for Pontocerebellar Hypoplasia, Type 5

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 Pontocerebellar Hypoplasia, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 4 29.3 TSEN54 TRIP13
2 pontocerebellar hypoplasia, type 2a 29.2 TSEN54 TRIP13
3 pontocerebellar hypoplasia 28.9 VRK1 TSEN54 TRIP13
4 pontocerebellar hypoplasia, type 2e 10.1
5 exosc3-related pontocerebellar hypoplasia 10.1
6 pontocerebellar hypoplasia type 1 9.7 VRK1 TSEN54
7 anterior horn cell disease 9.7 VRK1 TSEN54
8 spinal muscular atrophy, type i 9.4 VRK1 TRIP13
9 pontocerebellar hypoplasia, type 2d 9.2 VRK1 TSEN54 TRIP13
10 congenital disorder of glycosylation, type in 9.2 TSEN54 TRIP13
11 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.2 VRK1 TSEN54 TRIP13
12 microcephaly 9.1 VRK1 TSEN54 TRIP13
13 polyhydramnios 9.1 VRK1 TSEN54 TRIP13

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 5:



Diseases related to Pontocerebellar Hypoplasia, Type 5

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 5

Human phenotypes related to Pontocerebellar Hypoplasia, Type 5:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 microcephaly 31 HP:0000252
3 olivopontocerebellar hypoplasia 31 HP:0006955

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
microcephaly
cerebellar hypoplasia
olivopontocerebellar hypoplasia, severe
seizure including seizure-like activity in utero starting around 18 weeks gestation
dysplastic c-shaped inferior olivary nuclei
more

Clinical features from OMIM:

610204

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 5

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 5

Cochrane evidence based reviews: olivopontocerebellar hypoplasia, fetal-onset

Genetic Tests for Pontocerebellar Hypoplasia, Type 5

Genetic tests related to Pontocerebellar Hypoplasia, Type 5:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 5 29 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia, Type 5

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 5:

40
Cerebellum, Brain, Pons, Eye

Publications for Pontocerebellar Hypoplasia, Type 5

Articles related to Pontocerebellar Hypoplasia, Type 5:

# Title Authors PMID Year
1
TSEN54 mutations cause pontocerebellar hypoplasia type 5. 61 56 6
21368912 2011
2
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? 56 6
16470708 2006
3
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 6
20956791 2010
4
TSEN54-Related Pontocerebellar Hypoplasia 6
20301773 2009
5
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 6
18711368 2008

Variations for Pontocerebellar Hypoplasia, Type 5

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 5:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSEN54 NM_207346.3(TSEN54):c.468+2T>CSNV Pathogenic 180672 rs886037740 17:73513738-73513738 17:75517657-75517657
2 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
3 TSEN54 NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)SNV Uncertain significance 198637 rs147165460 17:73517590-73517590 17:75521509-75521509
4 TSEN54 NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)SNV Uncertain significance 212455 rs201089582 17:73512853-73512853 17:75516772-75516772

Expression for Pontocerebellar Hypoplasia, Type 5

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 5.

Pathways for Pontocerebellar Hypoplasia, Type 5

GO Terms for Pontocerebellar Hypoplasia, Type 5

Sources for Pontocerebellar Hypoplasia, Type 5

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....