MCID: PNT046
MIFTS: 28

Pontocerebellar Hypoplasia, Type 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 53 59 75 29 6 15
Olivopontocerebellar Hypoplasia, Fetal-Onset 57 75 44 73
Pch5 57 59 75
Olivopontocerebellar Hypoplasia Fetal-Onset 53
Fetal-Onset Olivopontocerebellar Hypoplasia 59
Hypoplasia, Pontocerebellar, Type 5 40
Pontocerebellar Hypoplasia 5 75

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pontocerebellar hypoplasia, type 5:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 610204
Disease Ontology 12 DOID:0060274
Orphanet 59 ORPHA166068
UMLS via Orphanet 74 C1857762
ICD10 via Orphanet 34 Q04.3
MedGen 42 C1857762
UMLS 73 C1857762

Summaries for Pontocerebellar Hypoplasia, Type 5

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166068Disease definitionPontocerebellar 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.EpidemiologyPCH5 is reported in 3 siblings to date.Clinical descriptionPCH5, 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.EtiologyPCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive.Diagnostic methodsClinically 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 diagnosisAntenatal 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 and pontocerebellar hypoplasia, type 1a. 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 microcephaly and seizures

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)

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 5:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 seizures 32 HP:0001250
3 olivopontocerebellar hypoplasia 32 HP:0006955

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:

41
Cerebellum, Brain, Pons

Publications for Pontocerebellar Hypoplasia, Type 5

Articles related to Pontocerebellar Hypoplasia, Type 5:

# Title Authors Year
1
TSEN54 mutations cause pontocerebellar hypoplasia type 5. ( 21368912 )
2011

Variations for Pontocerebellar Hypoplasia, Type 5

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 TSEN54 NM_207346.2(TSEN54): c.468+2T> C single nucleotide variant Pathogenic rs886037740 GRCh38 Chromosome 17, 75517657: 75517657
4 TSEN54 NM_207346.2(TSEN54): c.468+2T> C single nucleotide variant Pathogenic rs886037740 GRCh37 Chromosome 17, 73513738: 73513738

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

Cellular components related to Pontocerebellar Hypoplasia, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 8.62 TSEN54 VRK1

Sources for Pontocerebellar Hypoplasia, Type 5

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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