PCH2E
MCID: PNT034
MIFTS: 53

Pontocerebellar Hypoplasia, Type 2e (PCH2E)

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 2e

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2e:

Name: Pontocerebellar Hypoplasia, Type 2e 57 29 6 70
Pontocerebellar Hypoplasia Type 2 20 58 29 70
Pch2e 57 72
Pch2 20 58
Progressive Microcephaly from Birth Extrapyramidal Dyskinesia Chorea Epilepsy 20
Progressive Cerebello-Cerebral Atrophy Type 2 72
Progressive Cerebello-Cerebral Atrophy 58
Hypoplasia, Pontocerebellar, Type 2e 39
Pontocerebellar Hypoplasia, Type 2d 70
Pontocerebellar Hypoplasia Type 2a 70
Pontocerebellar Hypoplasia Type 2e 12
Pontocerebellar Hypoplasia 2e 72
Pcca2 72
Pcca 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
pontocerebellar hypoplasia, type 2e:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pontocerebellar Hypoplasia, Type 2e

GARD : 20 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, type 2a and pontocerebellar hypoplasia, type 4, and has symptoms including seizures, clonus and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2e is VPS53 (VPS53 Subunit Of GARP Complex), and among its related pathways/superpathways are tRNA processing and Transcription of tRNA. The drugs Metformin and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pons, and related phenotypes are sleep disturbance and severe global developmental delay

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has material basis in autosomal recessive inheritance of mutation in the VPS53 gene.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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

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 14
Pontocerebellar Hypoplasia, Type 15 Pontocerebellar Hypoplasia, Type 1e
Pontocerebellar Hypoplasia, Type 1f

Diseases related to Pontocerebellar Hypoplasia, Type 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 2a 30.5 TSEN54 TSEN34 TSEN2 SEPSECS
2 pontocerebellar hypoplasia, type 4 30.1 TSEN54 TSEN15
3 pontocerebellar hypoplasia 29.9 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
4 tsen54 pontocerebellar hypoplasia 29.6 TSEN54 TSEN34 TSEN2
5 peho syndrome 29.2 TSEN54 TSEN34 TSEN2
6 microcephaly 28.0 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
7 propionic acidemia 11.5
8 pontocerebellar hypoplasia, type 2d 11.2
9 pontocerebellar hypoplasia, type 2f 11.2
10 biotin deficiency 11.0
11 methylmalonic acidemia 11.0
12 multiple carboxylase deficiency 11.0
13 hypertrichosis universalis congenita, ambras type 10.9
14 fructose-1,6-bisphosphatase deficiency 10.9
15 maple syrup urine disease 10.9
16 immunodeficiency 34 10.9
17 abdominal obesity-metabolic syndrome 1 10.9
18 niemann-pick disease, type b 10.9
19 organic acidemia 10.9
20 amino acid metabolic disorder 10.9
21 cerebellar hypoplasia 10.4
22 dystonia 10.4
23 chorea, childhood-onset, with psychomotor retardation 10.3
24 choreatic disease 10.3
25 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
26 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
27 hyperekplexia 10.2
28 myopathy 10.2
29 cerebral atrophy 10.2
30 myoclonus 10.2
31 autosomal recessive disease 10.2
32 3-methylglutaconic aciduria, type iii 10.1
33 peho-like syndrome 10.1
34 encephalopathy 10.1
35 jumping frenchmen of maine 10.1
36 pontocerebellar hypoplasia, type 2b 10.1
37 dyskinetic cerebral palsy 10.1
38 spinal muscular atrophy 10.1
39 cerebral palsy 10.1
40 muscular atrophy 10.1
41 polyhydramnios 10.1
42 cerebellar degeneration 10.1
43 spasticity 10.1
44 pontocerebellar hypoplasia, type 1e 9.9
45 colon adenocarcinoma 9.9
46 breast adenocarcinoma 9.9
47 hypertonia 9.9
48 non-syndromic pontocerebellar hypoplasia 9.9
49 thyroid carcinoma 9.9
50 spastic quadriplegia 9.9 VPS53 SEPSECS

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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2e:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
2 severe global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0011344
3 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
4 choreoathetosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001266
5 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
6 impaired oropharyngeal swallow response 58 31 hallmark (90%) Very frequent (99-80%) HP:0031162
7 hypoplasia of the ventral pons 58 31 hallmark (90%) Very frequent (99-80%) HP:0006850
8 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
9 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
12 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
13 infantile spasms 58 31 very rare (1%) Frequent (79-30%) HP:0012469
14 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
15 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
16 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
17 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
18 hypoplasia of the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0002365
19 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
20 paroxysmal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002268
21 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
22 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
23 ventriculomegaly 58 31 very rare (1%) Occasional (29-5%) HP:0002119
24 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
25 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
26 abnormal cortical gyration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002536
27 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
28 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
29 infantile axial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009062
30 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
31 lower limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006895
32 upper limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0200049
33 viral infection-induced rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003558
34 widened cerebellar subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012765
35 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190
36 simple febrile seizure 31 occasional (7.5%) HP:0011171
37 cerebellar cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0002350
38 intellectual disability 31 very rare (1%) HP:0001249
39 failure to thrive 31 very rare (1%) HP:0001508
40 global developmental delay 31 very rare (1%) HP:0001263
41 short nose 31 very rare (1%) HP:0003196
42 optic atrophy 31 very rare (1%) HP:0000648
43 spastic tetraplegia 31 very rare (1%) HP:0002510
44 myoclonus 31 very rare (1%) HP:0001336
45 strabismus 31 very rare (1%) HP:0000486
46 micrognathia 31 very rare (1%) HP:0000347
47 epicanthus 31 very rare (1%) HP:0000286
48 large earlobe 31 very rare (1%) HP:0009748
49 wide nose 31 very rare (1%) HP:0000445
50 cerebellar atrophy 31 very rare (1%) HP:0001272

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
absent speech
irritability
opisthotonus
mental retardation, profound
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
epicanthal folds
optic atrophy (in some patients)
poor or absent visual tracking
gaze-evoked nystagmus (in some patients)

Head And Neck Face:
micrognathia
bitemporal narrowing
dysmorphic facial features, variable

Head And Neck Head:
microcephaly, progressive

Head And Neck Nose:
short wide nose

Growth Other:
failure to thrive
poor overall growth

Growth Height:
short stature

Skeletal:
osteoporosis
joint contractures

Muscle Soft Tissue:
hypotonia, neonatal
distal limb edema (in some patients)

Head And Neck Ears:
prominent earlobes

Clinical features from OMIM®:

615851 (Updated 20-May-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2e:


seizures; clonus; opisthotonus; sleep disturbances; muscle spasticity

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2e

Drugs for Pontocerebellar Hypoplasia, Type 2e (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
2
Caffeine Approved Phase 2 58-08-2 2519
3 Hypoglycemic Agents Phase 1, Phase 2
4 insulin Phase 1, Phase 2
5 Insulin, Globin Zinc Phase 1, Phase 2
6 Central Nervous System Stimulants Phase 2
7 Phosphodiesterase Inhibitors Phase 2
8 Neurotransmitter Agents Phase 2
9
Sodium citrate Approved, Investigational 68-04-2
10
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
11
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
12 Citrate
13 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metformin to Augment Low Milk Supply in Pre-diabetic Mothers, a Phase I/II Randomized Clinical Trial Completed NCT02179788 Phase 1, Phase 2 Metformin;Placebo
2 A Phase 1, Randomized, Double Blinded, Placebo Controlled Study of the Safety and Efficacy of a Caffeine-based Antifibrosis Cream in Patients With Breast Cancer Undergoing Radiation Therapy Recruiting NCT03768492 Phase 2 Caffeine anhydrous 5% added to Lipoderm Cream Base.
3 Randomized Clinical Trial Comparing Three Dimension Laparoscopic and Open Surgery for Perihiliar Cholangiocarcinoma Recruiting NCT03383796
4 A Pilot, Proof of Concept, Placebo-controlled, Parallel Study of the Effects of High Dose Intranasal Oxytocin for the Treatment of Tinnitus Recruiting NCT04210310 Oxytocin
5 Preoperative Portal Vein Embolization Using Coils Plus TAGM vs Multiple Coils for Patients With Perihilar Cholangiocarcinoma or Hepatocellular Carcinoma: a Randomized Controlled Study Recruiting NCT04386772

Search 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:

40
Eye, Brain, Pons, Cerebellum, Colon, Liver, Thyroid

Publications for Pontocerebellar Hypoplasia, Type 2e

Articles related to Pontocerebellar Hypoplasia, Type 2e:

(show all 35)
# Title Authors PMID Year
1
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. 6 57
30100179 2018
2
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). 6 57
24577744 2014
3
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. 57 6
12920088 2003
4
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. 61 6
29410950 2018
5
Natural course of pontocerebellar hypoplasia type 2A. 61 6
24886362 2014
6
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. 61 6
23307886 2014
7
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. 6 61
23562994 2013
8
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. 6 61
23177318 2013
9
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? 61 6
20803644 2010
10
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 6
27392077 2016
11
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? 6
27570394 2016
12
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. 6
28567303 2016
13
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6
25558065 2015
14
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 6
25044680 2014
15
TSEN54 mutations cause pontocerebellar hypoplasia type 5. 6
21368912 2011
16
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. 6
20920667 2010
17
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 6
20956791 2010
18
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 6
18711368 2008
19
Levodopa-Responsive Chorea: A Review. 61
32189864 2020
20
Brain morphometry in Pontocerebellar Hypoplasia type 2. 61
27430971 2016
21
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. 61
26888482 2016
22
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. 61
25837317 2015
23
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. 61
26701950 2015
24
Targeted carrier screening for four recessive disorders: high detection rate within a founder population. 61
25641760 2015
25
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). 61
17825555 2008
26
Pontocerebellar hypoplasia type 2: a neuropathological update. 61
17641900 2007
27
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. 61
17320436 2007
28
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa. 61
12021950 2002
29
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. 61
11952074 2002
30
Near-total absence of the cerebellum. 61
11414645 2001
31
Fatal outcome in a case of pontocerebellar hypoplasia type 2. 61
10978619 2000
32
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. 61
10814903 2000
33
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases. 61
9295852 1997
34
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. 61
8912329 1996
35
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. 61
7854532 1995

Variations for Pontocerebellar Hypoplasia, Type 2e

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

6 (show top 50) (show all 161)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS53 NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) SNV Pathogenic 139444 rs587777465 GRCh37: 17:436083-436083
GRCh38: 17:532843-532843
2 VPS53 NM_001128159.3(VPS53):c.1556+5G>A SNV Pathogenic 139445 rs587777466 GRCh37: 17:465738-465738
GRCh38: 17:562498-562498
3 TSEN15 NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys) SNV Pathogenic 243000 rs879253779 GRCh37: 1:184041392-184041392
GRCh38: 1:184072258-184072258
4 TSEN15 NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) SNV Pathogenic 183315 rs730882223 GRCh37: 1:184023870-184023870
GRCh38: 1:184054736-184054736
5 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
6 TSEN34 NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) SNV Pathogenic 2124 rs113994150 GRCh37: 19:54695387-54695387
GRCh38: 19:54191536-54191536
7 VPS53 NM_001128159.3(VPS53):c.300_301dup (p.Gln101fs) Duplication Pathogenic 817131 rs1447478732 GRCh37: 17:565119-565120
GRCh38: 17:661879-661880
8 TSEN2 NM_025265.4(TSEN2):c.960+1_960+5del Deletion Pathogenic 180669 rs886037738 GRCh37: 3:12558158-12558162
GRCh38: 3:12516659-12516663
9 TSEN2 NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) SNV Pathogenic 180670 rs886037739 GRCh37: 3:12558134-12558134
GRCh38: 3:12516635-12516635
10 TSEN2 NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) SNV Pathogenic 180671 rs730880294 GRCh37: 3:12545143-12545143
GRCh38: 3:12503644-12503644
11 SEPSECS NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) SNV Pathogenic 190145 rs773876739 GRCh37: 4:25125593-25125593
GRCh38: 4:25123971-25123971
12 TSEN54 NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) Insertion Pathogenic 212451 rs797046054 GRCh37: 17:73519815-73519816
GRCh38: 17:75523734-75523735
13 TSEN54 NM_207346.3(TSEN54):c.823del (p.Val275fs) Deletion Pathogenic 212454 rs797046057 GRCh37: 17:73517981-73517981
GRCh38: 17:75521900-75521900
14 TSEN54 NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) Duplication Pathogenic 212452 rs797046055 GRCh37: 17:73519824-73519825
GRCh38: 17:75523743-75523744
15 SEPSECS NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) SNV Pathogenic 18400 rs267607036 GRCh37: 4:25146421-25146421
GRCh38: 4:25144799-25144799
16 SEPSECS NM_016955.5(SEPSECS):c.808dup Duplication Pathogenic 279890 rs776969714 GRCh37: 4:25146751-25146752
GRCh38: 4:25145129-25145130
17 TSEN54 NM_207346.3(TSEN54):c.940del (p.Leu314fs) Deletion Pathogenic 561138 rs1012275384 GRCh37: 17:73518100-73518100
GRCh38: 17:75522019-75522019
18 TSEN54 NM_207346.3(TSEN54):c.997_998del (p.Asp333fs) Deletion Pathogenic 1029535 GRCh37: 17:73518158-73518159
GRCh38: 17:75522077-75522078
19 TSEN2 NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) Indel Pathogenic 1031439 GRCh37: 3:12545222-12545228
GRCh38: 3:12503723-12503729
20 TSEN2 NM_025265.4(TSEN2):c.811G>T (p.Glu271Ter) SNV Pathogenic 1031440 GRCh37: 3:12545263-12545263
GRCh38: 3:12503764-12503764
21 SEPSECS NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) Microsatellite Pathogenic 1031980 GRCh37: 4:25146396-25146399
GRCh38: 4:25144774-25144777
22 TSEN54 NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) SNV Pathogenic 620188 rs143604970 GRCh37: 17:73518201-73518201
GRCh38: 17:75522120-75522120
23 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic/Likely pathogenic 2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
24 TSEN2 NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) Deletion Likely pathogenic 495253 rs755246924 GRCh37: 3:12544805-12544806
GRCh38: 3:12503306-12503307
25 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Likely pathogenic 2121 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
26 TSEN2 NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) SNV Likely pathogenic 495252 rs1477347690 GRCh37: 3:12560634-12560634
GRCh38: 3:12519135-12519135
27 TSEN54 NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) SNV Likely pathogenic 495240 rs774157225 GRCh37: 17:73513639-73513639
GRCh38: 17:75517558-75517558
28 SEPSECS NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) SNV Likely pathogenic 522806 rs146539065 GRCh37: 4:25146714-25146714
GRCh38: 4:25145092-25145092
29 SEPSECS NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) SNV Likely pathogenic 18401 rs267607035 GRCh37: 4:25153671-25153671
GRCh38: 4:25152049-25152049
30 TSEN2 NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) SNV Likely pathogenic 212442 rs797046051 GRCh37: 3:12573157-12573157
GRCh38: 3:12531658-12531658
31 TSEN2 NM_025265.4(TSEN2):c.138_140CAA[1] (p.Asn48del) Microsatellite Likely pathogenic 212443 rs797046052 GRCh37: 3:12531435-12531437
GRCh38: 3:12489936-12489938
32 VPS53 NM_001128159.3(VPS53):c.1312_1313+2del Deletion Likely pathogenic 554119 rs768997239 GRCh37: 17:489508-489511
GRCh38: 17:586268-586271
33 VPS53 NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter) SNV Likely pathogenic 557943 rs200594402 GRCh37: 17:465783-465783
GRCh38: 17:562543-562543
34 VPS53 NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu) SNV Likely pathogenic 818227 rs1472685858 GRCh37: 17:531467-531467
GRCh38: 17:628227-628227
35 TSEN15 NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) SNV Likely pathogenic 243001 rs879253780 GRCh37: 1:184023990-184023990
GRCh38: 1:184054856-184054856
36 TSEN54 NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) SNV Likely pathogenic 638161 rs1598480419 GRCh37: 17:73520447-73520447
GRCh38: 17:75524366-75524366
37 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 GRCh37: 4:25158473-25158473
GRCh38: 4:25156851-25156851
38 TSEN34 NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) Duplication Likely pathogenic 804160 rs1246937494 GRCh37: 19:54697144-54697145
GRCh38: 19:54193289-54193290
39 SEPSECS NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) SNV Likely pathogenic 620464 rs779387647 GRCh37: 4:25153620-25153620
GRCh38: 4:25151998-25151998
40 TSEN2 NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) SNV Conflicting interpretations of pathogenicity 2125 rs113994149 GRCh37: 3:12558126-12558126
GRCh38: 3:12516627-12516627
41 TSEN2 NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) SNV Uncertain significance 160101 rs145142315 GRCh37: 3:12560610-12560610
GRCh38: 3:12519111-12519111
42 TSEN2 NM_025265.4(TSEN2):c.1272T>C (p.Ile424=) SNV Uncertain significance 160105 rs111535594 GRCh37: 3:12573092-12573092
GRCh38: 3:12531593-12531593
43 TSEN2 NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) SNV Uncertain significance 160108 rs75288720 GRCh37: 3:12574211-12574211
GRCh38: 3:12532712-12532712
44 TSEN2 NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) SNV Uncertain significance 160111 rs202097247 GRCh37: 3:12544774-12544774
GRCh38: 3:12503275-12503275
45 TSEN2 NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile) SNV Uncertain significance 160114 rs35557378 GRCh37: 3:12545060-12545060
GRCh38: 3:12503561-12503561
46 TSEN2 NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) SNV Uncertain significance 160115 rs201214741 GRCh37: 3:12545105-12545105
GRCh38: 3:12503606-12503606
47 TSEN34 NM_001077446.4(TSEN34):c.468G>C (p.Ser156=) SNV Uncertain significance 160121 rs376153530 GRCh37: 19:54695796-54695796
GRCh38: 19:54191945-54191945
48 VPS53 NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter) SNV Uncertain significance 551839 rs1434668575 GRCh37: 17:422520-422520
GRCh38: 17:519280-519280
49 VPS53 NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg) SNV Uncertain significance 1029110 GRCh37: 17:440277-440277
GRCh38: 17:537037-537037
50 VPS53 NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg) SNV Uncertain significance 1029111 GRCh37: 17:422538-422538
GRCh38: 17:519298-519298

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

72
# Symbol AA change Variation ID SNP ID
1 VPS53 p.Gln695Arg VAR_071803 rs587777465

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
11.63 TSEN54 TSEN34 TSEN2 TSEN15
2
Show member pathways
10.4 TSEN54 TSEN34 TSEN2

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 TSEN54 TSEN34 TSEN2 TSEN15
2 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN54 TSEN34 TSEN2

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 9.56 TSEN54 TSEN34 TSEN2 TSEN15
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.5 TSEN34 TSEN2 TSEN15
3 tRNA processing GO:0008033 9.46 TSEN54 TSEN34 TSEN2 TSEN15
4 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.4 TSEN34 TSEN2
5 RNA phosphodiester bond hydrolysis GO:0090501 9.37 TSEN34 TSEN2
6 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN54 TSEN34 TSEN2
7 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 8.92 TSEN54 TSEN34 TSEN2 TSEN15

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 TSEN34 TSEN2 TSEN15
2 nuclease activity GO:0004518 9.33 TSEN34 TSEN2 TSEN15
3 lyase activity GO:0016829 9.26 TSEN34 TSEN2
4 endonuclease activity GO:0004519 9.13 TSEN34 TSEN2 TSEN15
5 tRNA-intron endonuclease activity GO:0000213 8.62 TSEN34 TSEN2

Sources for Pontocerebellar Hypoplasia, Type 2e

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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