PCH2B
MCID: PNT047
MIFTS: 25

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 58
Pontocerebellar Hypoplasia Type 2b 58 12 30 13 6 45 74
Pch2b 58 76
Hypoplasia, Pontocerebellar, Type 2b 41
Pontocerebellar Hypoplasia 2b 76

Characteristics:

OMIM:

58
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:

33
pontocerebellar hypoplasia, type 2b:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2b

OMIM : 58 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)

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 spinal cord and cerebellum, 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 : 76 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:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 33 occasional (7.5%) HP:0002119
2 cerebral atrophy 33 occasional (7.5%) HP:0002059
3 cortical gyral simplification 33 occasional (7.5%) HP:0009879
4 seizures 33 HP:0001250
5 chorea 33 HP:0002072
6 clonus 33 HP:0002169
7 visual impairment 33 HP:0000505
8 feeding difficulties 33 HP:0011968
9 babinski sign 33 HP:0003487
10 dystonia 33 HP:0001332
11 cerebellar hypoplasia 33 HP:0001321
12 cerebellar atrophy 33 HP:0001272
13 sloping forehead 33 HP:0000340
14 generalized hypotonia 33 HP:0001290
15 hypoplasia of the corpus callosum 33 HP:0002079
16 opisthotonus 33 HP:0002179
17 muscular hypotonia of the trunk 33 HP:0008936
18 extrapyramidal dyskinesia 33 HP:0007308
19 limb hypertonia 33 HP:0002509
20 progressive microcephaly 33 HP:0000253
21 hypoplasia of the brainstem 33 HP:0002365

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
chorea
clonus
dystonia
opisthotonus
more
Head And Neck Face:
sloping forehead

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

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

612389

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 30 TSEN2

Anatomical Context for Pontocerebellar Hypoplasia, Type 2b

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

42
Spinal Cord, Cerebellum

Publications for Pontocerebellar Hypoplasia, Type 2b

Variations for Pontocerebellar Hypoplasia, Type 2b

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

76
# Symbol AA change Variation ID SNP ID
1 TSEN2 p.Tyr309Cys VAR_054810 rs113994149

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

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN2 NM_025265.3(TSEN2): c.66A> C (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637658 GRCh37 Chromosome 3, 12531365: 12531365
2 TSEN2 NM_025265.3(TSEN2): c.66A> C (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637658 GRCh38 Chromosome 3, 12489866: 12489866
3 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh37 Chromosome 3, 12544774: 12544774
4 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh38 Chromosome 3, 12503275: 12503275
5 TSEN2 NM_025265.3(TSEN2): c.608C> T (p.Thr203Ile) single nucleotide variant Uncertain significance rs35557378 GRCh37 Chromosome 3, 12545060: 12545060
6 TSEN2 NM_025265.3(TSEN2): c.608C> T (p.Thr203Ile) single nucleotide variant Uncertain significance rs35557378 GRCh38 Chromosome 3, 12503561: 12503561
7 TSEN2 NM_025265.3(TSEN2): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs201214741 GRCh37 Chromosome 3, 12545105: 12545105
8 TSEN2 NM_025265.3(TSEN2): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs201214741 GRCh38 Chromosome 3, 12503606: 12503606
9 TSEN2 NM_025265.3(TSEN2): c.1013C> G (p.Thr338Arg) single nucleotide variant Uncertain significance rs145142315 GRCh37 Chromosome 3, 12560610: 12560610
10 TSEN2 NM_025265.3(TSEN2): c.1013C> G (p.Thr338Arg) single nucleotide variant Uncertain significance rs145142315 GRCh38 Chromosome 3, 12519111: 12519111
11 TSEN2 NM_025265.3(TSEN2): c.1272T> C (p.Ile424=) single nucleotide variant Uncertain significance rs111535594 GRCh37 Chromosome 3, 12573092: 12573092
12 TSEN2 NM_025265.3(TSEN2): c.1272T> C (p.Ile424=) single nucleotide variant Uncertain significance rs111535594 GRCh38 Chromosome 3, 12531593: 12531593
13 TSEN2 NM_025265.3(TSEN2): c.1389C> T (p.Asp463=) single nucleotide variant Uncertain significance rs75288720 GRCh37 Chromosome 3, 12574211: 12574211
14 TSEN2 NM_025265.3(TSEN2): c.1389C> T (p.Asp463=) single nucleotide variant Uncertain significance rs75288720 GRCh38 Chromosome 3, 12532712: 12532712
15 TSEN2 NM_001145394.1(TSEN2): c.783+1_783+5delGTAAG deletion Pathogenic rs886037738 GRCh38 Chromosome 3, 12516662: 12516666
16 TSEN2 NM_001145394.1(TSEN2): c.783+1_783+5delGTAAG deletion Pathogenic rs886037738 GRCh37 Chromosome 3, 12558161: 12558165
17 TSEN2 NM_001145394.1(TSEN2): c.757G> A (p.Gly253Arg) single nucleotide variant Pathogenic rs886037739 GRCh38 Chromosome 3, 12516635: 12516635
18 TSEN2 NM_001145394.1(TSEN2): c.757G> A (p.Gly253Arg) single nucleotide variant Pathogenic rs886037739 GRCh37 Chromosome 3, 12558134: 12558134
19 TSEN2 NM_001145392.1(TSEN2): c.691C> T (p.Gln231Ter) single nucleotide variant Pathogenic rs730880294 GRCh37 Chromosome 3, 12545143: 12545143
20 TSEN2 NM_001145392.1(TSEN2): c.691C> T (p.Gln231Ter) single nucleotide variant Pathogenic rs730880294 GRCh38 Chromosome 3, 12503644: 12503644
21 TSEN2 NM_025265.3(TSEN2): c.141_143del (p.Asn48del) deletion Likely pathogenic rs797046052 GRCh38 Chromosome 3, 12489941: 12489943
22 TSEN2 NM_025265.3(TSEN2): c.141_143del (p.Asn48del) deletion Likely pathogenic rs797046052 GRCh37 Chromosome 3, 12531440: 12531442
23 TSEN2 NM_025265.3(TSEN2): c.1337A> G (p.Gln446Arg) single nucleotide variant Likely pathogenic rs797046051 GRCh37 Chromosome 3, 12573157: 12573157
24 TSEN2 NM_025265.3(TSEN2): c.1337A> G (p.Gln446Arg) single nucleotide variant Likely pathogenic rs797046051 GRCh38 Chromosome 3, 12531658: 12531658
25 TSEN2 NM_025265.3(TSEN2): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs113994149 GRCh37 Chromosome 3, 12558126: 12558126
26 TSEN2 NM_025265.3(TSEN2): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs113994149 GRCh38 Chromosome 3, 12516627: 12516627
27 TSEN2 NM_025265.3(TSEN2): c.353_354del (p.Gln118Argfs) deletion Likely pathogenic rs755246924 GRCh38 Chromosome 3, 12503306: 12503307
28 TSEN2 NM_025265.3(TSEN2): c.353_354del (p.Gln118Argfs) deletion Likely pathogenic rs755246924 GRCh37 Chromosome 3, 12544805: 12544806
29 TSEN2 NM_025265.3(TSEN2): c.1037A> G (p.Tyr346Cys) single nucleotide variant Likely pathogenic rs1477347690 GRCh38 Chromosome 3, 12519135: 12519135
30 TSEN2 NM_025265.3(TSEN2): c.1037A> G (p.Tyr346Cys) single nucleotide variant Likely pathogenic rs1477347690 GRCh37 Chromosome 3, 12560634: 12560634

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....