PCH5
MCID: PNT046
MIFTS: 28

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 57
Pontocerebellar Hypoplasia Type 5 57 12 20 72 29 6 15
Olivopontocerebellar Hypoplasia, Fetal-Onset 57 72 44 70
Pch5 57 72
Olivopontocerebellar Hypoplasia Fetal-Onset 20
Hypoplasia, Pontocerebellar, Type 5 39
Pontocerebellar Hypoplasia 5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:



External Ids:

Disease Ontology 12 DOID:0060274
OMIM® 57 610204
OMIM Phenotypic Series 57 PS607596
SNOMED-CT 67 718607001
MedGen 41 C1857762
UMLS 70 C1857762

Summaries for Pontocerebellar Hypoplasia, Type 5

GARD : 20 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.

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 and pons, and related phenotypes are microcephaly and olivopontocerebellar hypoplasia

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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 Pontocerebellar Hypoplasia Type 1

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

# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 4 29.8 TSEN54 TRIP13
2 pontocerebellar hypoplasia, type 2a 29.7 TSEN54 TRIP13
3 pontocerebellar hypoplasia 29.2 VRK1 TSEN54 TRIP13
4 pontocerebellar hypoplasia, type 2e 10.1
5 pontocerebellar hypoplasia type 1 9.7 VRK1 TSEN54
6 anterior horn cell disease 9.6 VRK1 TSEN54
7 peho syndrome 9.5 VRK1 TSEN54
8 polyhydramnios 9.4 VRK1 TSEN54
9 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.4 VRK1 TSEN54 TRIP13
10 microcephaly 9.4 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 microcephaly 31 HP:0000252
2 olivopontocerebellar hypoplasia 31 HP:0006955
3 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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, Pons

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. 57 6 61
21368912 2011
2
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? 6 57
16470708 2006
3
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 6
20956791 2010
4
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 Position
1 TSEN54 NM_207346.3(TSEN54):c.468+2T>C SNV Pathogenic 180672 rs886037740 GRCh37: 17:73513738-73513738
GRCh38: 17:75517657-75517657
2 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
3 TSEN54 NM_207346.3(TSEN54):c.1216dup (p.Thr406fs) Duplication Likely pathogenic 930694 GRCh37: 17:73518377-73518378
GRCh38: 17:75522296-75522297
4 TSEN54 NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) SNV Likely pathogenic 2122 rs113994153 GRCh37: 17:73517898-73517898
GRCh38: 17:75521817-75521817
5 TSEN54 NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) SNV Uncertain significance 212455 rs201089582 GRCh37: 17:73512853-73512853
GRCh38: 17:75516772-75516772
6 TSEN54 NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) SNV Uncertain significance 198637 rs147165460 GRCh37: 17:73517590-73517590
GRCh38: 17:75521509-75521509
7 TSEN54 NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp) SNV Uncertain significance 212449 rs200540627 GRCh37: 17:73518219-73518219
GRCh38: 17:75522138-75522138
8 TSEN54 NM_207346.3(TSEN54):c.462G>C (p.Gln154His) SNV Uncertain significance 1029381 GRCh37: 17:73513730-73513730
GRCh38: 17:75517649-75517649
9 TSEN54 NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) SNV Uncertain significance 890282 GRCh37: 17:73519811-73519811
GRCh38: 17:75523730-75523730

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
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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