PCH2B
MCID: PNT047
MIFTS: 27

Pontocerebellar Hypoplasia, Type 2b (PCH2B)

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 2b

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2b:

Name: Pontocerebellar Hypoplasia, Type 2b 57
Pontocerebellar Hypoplasia Type 2b 57 12 29 13 6 44 70
Pch2b 57 72
Hypoplasia, Pontocerebellar, Type 2b 39
Pontocerebellar Hypoplasia 2b 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
most patients die in early childhood
four patients from 3 families have been reported (last curated february 2015)


HPO:

31
pontocerebellar hypoplasia, type 2b:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2b

OMIM® : 57 Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (612389) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2b, is also known as pontocerebellar hypoplasia type 2b, and has symptoms including clonus, opisthotonus and muscle spasticity. An important gene associated with Pontocerebellar Hypoplasia, Type 2b is TSEN2 (TRNA Splicing Endonuclease Subunit 2). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are ventriculomegaly and cerebral atrophy

Disease Ontology : 12 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has material basis in autosomal recessive inheritance of mutation in the TSEN2 gene.

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 2B: A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2b

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2b:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 31 occasional (7.5%) HP:0002119
2 cerebral atrophy 31 occasional (7.5%) HP:0002059
3 simplified gyral pattern 31 occasional (7.5%) HP:0009879
4 clonus 31 HP:0002169
5 chorea 31 HP:0002072
6 visual impairment 31 HP:0000505
7 dystonia 31 HP:0001332
8 cerebellar hypoplasia 31 HP:0001321
9 babinski sign 31 HP:0003487
10 sloping forehead 31 HP:0000340
11 hypoplasia of the corpus callosum 31 HP:0002079
12 feeding difficulties 31 HP:0011968
13 cerebellar atrophy 31 HP:0001272
14 generalized hypotonia 31 HP:0001290
15 muscular hypotonia of the trunk 31 HP:0008936
16 limb hypertonia 31 HP:0002509
17 opisthotonus 31 HP:0002179
18 hypoplasia of the brainstem 31 HP:0002365
19 progressive microcephaly 31 HP:0000253
20 extrapyramidal dyskinesia 31 HP:0007308
21 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
clonus
chorea
dystonia
limb hypertonia
more
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
central visual impairment
lack of visual fixation

Head And Neck Face:
sloping forehead

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, progressive (up to -11 sd)

Clinical features from OMIM®:

612389 (Updated 20-May-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2b:


clonus; opisthotonus; muscle spasticity

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2b

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

Cochrane evidence based reviews: pontocerebellar hypoplasia type 2b

Genetic Tests for Pontocerebellar Hypoplasia, Type 2b

Genetic tests related to Pontocerebellar Hypoplasia, Type 2b:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2b 29 TSEN2

Anatomical Context for Pontocerebellar Hypoplasia, Type 2b

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

40
Eye, Cerebellum, Spinal Cord

Publications for Pontocerebellar Hypoplasia, Type 2b

Articles related to Pontocerebellar Hypoplasia, Type 2b:

# Title Authors PMID Year
1
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. 57 6
23562994 2013
2
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 6 57
18711368 2008
3
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 57
20952379 2011
4
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 57
8147499 1993
5
Nuclear heterogeneity in conidial populations of Aspergillus flavus. 61
26362651 2015

Variations for Pontocerebellar Hypoplasia, Type 2b

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSEN2 NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) Indel Pathogenic 1031439 GRCh37: 3:12545222-12545228
GRCh38: 3:12503723-12503729
2 TSEN2 NM_025265.4(TSEN2):c.811G>T (p.Glu271Ter) SNV Pathogenic 1031440 GRCh37: 3:12545263-12545263
GRCh38: 3:12503764-12503764
3 TSEN2 NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) SNV Pathogenic 180671 rs730880294 GRCh37: 3:12545143-12545143
GRCh38: 3:12503644-12503644
4 TSEN2 NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) SNV Pathogenic 180670 rs886037739 GRCh37: 3:12558134-12558134
GRCh38: 3:12516635-12516635
5 TSEN2 NM_025265.4(TSEN2):c.960+1_960+5del Deletion Pathogenic 180669 rs886037738 GRCh37: 3:12558158-12558162
GRCh38: 3:12516659-12516663
6 TSEN2 NM_025265.4(TSEN2):c.138_140CAA[1] (p.Asn48del) Microsatellite Likely pathogenic 212443 rs797046052 GRCh37: 3:12531435-12531437
GRCh38: 3:12489936-12489938
7 TSEN2 NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) SNV Likely pathogenic 212442 rs797046051 GRCh37: 3:12573157-12573157
GRCh38: 3:12531658-12531658
8 TSEN2 NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) Deletion Likely pathogenic 495253 rs755246924 GRCh37: 3:12544805-12544806
GRCh38: 3:12503306-12503307
9 TSEN2 NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) SNV Likely pathogenic 495252 rs1477347690 GRCh37: 3:12560634-12560634
GRCh38: 3:12519135-12519135
10 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
11 TSEN2 NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) SNV Uncertain significance 160101 rs145142315 GRCh37: 3:12560610-12560610
GRCh38: 3:12519111-12519111
12 TSEN2 NM_025265.4(TSEN2):c.1272T>C (p.Ile424=) SNV Uncertain significance 160105 rs111535594 GRCh37: 3:12573092-12573092
GRCh38: 3:12531593-12531593
13 TSEN2 NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) SNV Uncertain significance 160108 rs75288720 GRCh37: 3:12574211-12574211
GRCh38: 3:12532712-12532712
14 TSEN2 NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) SNV Uncertain significance 160111 rs202097247 GRCh37: 3:12544774-12544774
GRCh38: 3:12503275-12503275
15 TSEN2 NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile) SNV Uncertain significance 160114 rs35557378 GRCh37: 3:12545060-12545060
GRCh38: 3:12503561-12503561
16 TSEN2 NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) SNV Uncertain significance 160115 rs201214741 GRCh37: 3:12545105-12545105
GRCh38: 3:12503606-12503606
17 TSEN2 NM_025265.4(TSEN2):c.971C>T (p.Thr324Met) SNV Uncertain significance 393227 rs772061041 GRCh37: 3:12560568-12560568
GRCh38: 3:12519069-12519069

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

72
# Symbol AA change Variation ID SNP ID
1 TSEN2 p.Tyr309Cys VAR_054810 rs113994149

Expression for Pontocerebellar Hypoplasia, Type 2b

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

Pathways for Pontocerebellar Hypoplasia, Type 2b

GO Terms for Pontocerebellar Hypoplasia, Type 2b

Sources for Pontocerebellar Hypoplasia, Type 2b

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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