MCID: PNT034
MIFTS: 40

Pontocerebellar Hypoplasia, Type 2e

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 2e

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2e:

Name: Pontocerebellar Hypoplasia, Type 2e 57 29 6 73
Pontocerebellar Hypoplasia Type 2 53 59 29 73
Pch2e 57 75
Progressive Microcephaly from Birth Extrapyramidal Dyskinesia Chorea Epilepsy 53
Progressive Cerebello-Cerebral Atrophy Type 2 75
Progressive Cerebello-Cerebral Atrophy 59
Hypoplasia, Pontocerebellar, Type 2e 40
Pontocerebellar Hypoplasia, Type 2d 73
Pontocerebellar Hypoplasia Type 2a 73
Pontocerebellar Hypoplasia Type 2e 12
Pontocerebellar Hypoplasia 2e 75
Pcca2 75
Pch2 59
Pcca 59

Characteristics:

Orphanet epidemiological data:

59
progressive cerebello-cerebral atrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
pontocerebellar hypoplasia type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
reported in individuals of jewish moroccan ancestry


HPO:

32
pontocerebellar hypoplasia, type 2e:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2e

NIH Rare Diseases : 53 Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2e, also known as pontocerebellar hypoplasia type 2, is related to pontocerebellar hypoplasia and microcephaly, and has symptoms including muscle spasticity, seizures and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2e is VPS53 (VPS53, GARP Complex Subunit), and among its related pathways/superpathways is tRNA processing. Affiliated tissues include brain, and related phenotypes are progressive microcephaly and irritability

OMIM : 57 Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). (615851)

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 2E: A neurodegenerative disorder characterized by progressive cerebello- cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy.

Related Diseases for Pontocerebellar Hypoplasia, Type 2e

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 2e:



Diseases related to Pontocerebellar Hypoplasia, Type 2e

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2e

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
irritability
opisthotonus
mental retardation, profound
thin corpus callosum
more
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia, neonatal

Skeletal Spine:
scoliosis

Skeletal:
osteoporosis
joint contractures

Head And Neck Head:
microcephaly, progressive


Clinical features from OMIM:

615851

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2e:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 irritability 32 HP:0000737
3 osteoporosis 32 HP:0000939
4 seizures 32 HP:0001250
5 global developmental delay 32 HP:0001263
6 cerebellar atrophy 32 HP:0001272
7 neonatal hypotonia 32 HP:0001319
8 flexion contracture 32 HP:0001371
9 cerebral atrophy 32 HP:0002059
10 hypoplasia of the corpus callosum 32 HP:0002079
11 opisthotonus 32 HP:0002179
12 intellectual disability, profound 32 HP:0002187
13 spastic tetraplegia 32 HP:0002510
14 scoliosis 32 HP:0002650
15 short stature 32 HP:0004322

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2e:


muscle spasticity, seizures, opisthotonus, clonus, sleep disturbances

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2e

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 2e

Genetic Tests for Pontocerebellar Hypoplasia, Type 2e

Genetic tests related to Pontocerebellar Hypoplasia, Type 2e:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2 29
2 Pontocerebellar Hypoplasia, Type 2e 29 VPS53

Anatomical Context for Pontocerebellar Hypoplasia, Type 2e

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 2e:

41
Brain

Publications for Pontocerebellar Hypoplasia, Type 2e

Articles related to Pontocerebellar Hypoplasia, Type 2e:

(show all 16)
# Title Authors Year
1
<i>TSEN54</i> Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. ( 29410950 )
2018
2
Brain morphometry in Pontocerebellar Hypoplasia type 2. ( 27430971 )
2016
3
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317 )
2015
4
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. ( 26701950 )
2015
5
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. ( 23177318 )
2013
6
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. ( 23562994 )
2013
7
Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2. ( 23307886 )
2013
8
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? ( 20803644 )
2010
9
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). ( 17825555 )
2008
10
Pontocerebellar hypoplasia type 2: a neuropathological update. ( 17641900 )
2007
11
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. ( 17320436 )
2007
12
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa. ( 12021950 )
2002
13
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. ( 11952074 )
2002
14
Fatal outcome in a case of pontocerebellar hypoplasia type 2. ( 10978619 )
2000
15
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. ( 10814903 )
2000
16
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. ( 7854532 )
1995

Variations for Pontocerebellar Hypoplasia, Type 2e

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 2e:

75
# Symbol AA change Variation ID SNP ID
1 VPS53 p.Gln695Arg VAR_071803 rs587777465

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 2e:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS53 NM_001128159.2(VPS53): c.2084A> G (p.Gln695Arg) single nucleotide variant Pathogenic rs587777465 GRCh37 Chromosome 17, 436083: 436083
2 VPS53 NM_001128159.2(VPS53): c.2084A> G (p.Gln695Arg) single nucleotide variant Pathogenic rs587777465 GRCh38 Chromosome 17, 532843: 532843
3 VPS53 NM_001128159.2(VPS53): c.1556+5G> A single nucleotide variant Pathogenic rs587777466 GRCh37 Chromosome 17, 465738: 465738
4 VPS53 NM_001128159.2(VPS53): c.1556+5G> A single nucleotide variant Pathogenic rs587777466 GRCh38 Chromosome 17, 562498: 562498

Expression for Pontocerebellar Hypoplasia, Type 2e

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 2e.

Pathways for Pontocerebellar Hypoplasia, Type 2e

Pathways related to Pontocerebellar Hypoplasia, Type 2e according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 TSEN15 TSEN2 TSEN34 TSEN54

GO Terms for Pontocerebellar Hypoplasia, Type 2e

Cellular components related to Pontocerebellar Hypoplasia, Type 2e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.26 TSEN15 TSEN2 TSEN34 TSEN54
2 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN2 TSEN34 TSEN54

Biological processes related to Pontocerebellar Hypoplasia, Type 2e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.67 TSEN15 TSEN2 TSEN34 TSEN54
2 tRNA processing GO:0008033 9.62 TSEN15 TSEN2 TSEN34 TSEN54
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.58 TSEN15 TSEN2 TSEN34
4 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.56 TSEN15 TSEN2 TSEN34 TSEN54
5 RNA phosphodiester bond hydrolysis GO:0090501 9.46 TSEN15 TSEN2 TSEN34 TSEN54
6 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN2 TSEN34 TSEN54
7 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 8.92 TSEN15 TSEN2 TSEN34 TSEN54

Molecular functions related to Pontocerebellar Hypoplasia, Type 2e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.5 TSEN15 TSEN2 TSEN34
2 nuclease activity GO:0004518 9.33 TSEN15 TSEN2 TSEN34
3 lyase activity GO:0016829 9.26 TSEN2 TSEN34
4 endonuclease activity GO:0004519 9.13 TSEN15 TSEN2 TSEN34
5 tRNA-intron endonuclease activity GO:0000213 8.92 TSEN15 TSEN2 TSEN34 TSEN54

Sources for Pontocerebellar Hypoplasia, Type 2e

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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