MCID: PNT020
MIFTS: 26

Pontocerebellar Hypoplasia Type 2b

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

Aliases & Classifications for Pontocerebellar Hypoplasia Type 2b

MalaCards integrated aliases for Pontocerebellar Hypoplasia Type 2b:

Name: Pontocerebellar Hypoplasia Type 2b 54 12 29 13 42 69
Pontocerebellar Hypoplasia 2b 71
Pch2b 71

Characteristics:

OMIM:

54
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:

32
pontocerebellar hypoplasia type 2b:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia Type 2b

OMIM : 54
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 2b, and has symptoms including dystonia, chorea and ventriculomegaly. An important gene associated with Pontocerebellar Hypoplasia Type 2b is TSEN2 (TRNA Splicing Endonuclease Subunit 2). Affiliated tissues include spinal cord and cerebellum.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Head And Neck- Face:
sloping forehead

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

Neurologic- Central Nervous System:
seizures (in some patients)
dystonia
chorea
thin corpus callosum
spasticity
more
Abdomen- Gastroin testinal:
feeding difficulties

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


Clinical features from OMIM:

612389

Human phenotypes related to Pontocerebellar Hypoplasia Type 2b:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 chorea 32 HP:0002072
3 ventriculomegaly 32 occasional (7.5%) HP:0002119
4 cerebral atrophy 32 occasional (7.5%) HP:0002059
5 seizures 32 HP:0001250
6 microcephaly 32 HP:0000252
7 cerebellar hypoplasia 32 HP:0001321
8 sloping forehead 32 HP:0000340
9 hypoplasia of the corpus callosum 32 HP:0002079
10 clonus 32 HP:0002169
11 limb hypertonia 32 HP:0002509
12 feeding difficulties 32 HP:0011968
13 opisthotonus 32 HP:0002179
14 babinski sign 32 HP:0003487
15 hypoplasia of the brainstem 32 HP:0002365
16 cortical gyral simplification 32 occasional (7.5%) HP:0009879
17 progressive microcephaly 32 HP:0000253
18 extrapyramidal dyskinesia 32 HP:0007308
19 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Pontocerebellar Hypoplasia Type 2b:


clonus, muscle spasticity, opisthotonus

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:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2b 29

Anatomical Context for Pontocerebellar Hypoplasia Type 2b

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

39
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:

71
id Symbol AA change Variation ID SNP ID
1 TSEN2 p.Tyr309Cys VAR_054810 rs113994149

ClinVar genetic disease variations for Pontocerebellar Hypoplasia Type 2b:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSEN2 NM_025265.3(TSEN2): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs113994149 GRCh37 Chromosome 3, 12558126: 12558126
2 TSEN2 NM_001145394.1(TSEN2): c.783+1_783+5delGTAAG deletion Pathogenic rs886037738 GRCh38 Chromosome 3, 12516662: 12516666
3 TSEN2 NM_001145394.1(TSEN2): c.757G> A (p.Gly253Arg) single nucleotide variant Pathogenic rs886037739 GRCh38 Chromosome 3, 12516635: 12516635
4 TSEN2 NM_001145392.1(TSEN2): c.691C> T (p.Gln231Ter) single nucleotide variant Pathogenic rs730880294 GRCh37 Chromosome 3, 12545143: 12545143
5 TSEN2 NM_001145394.1(TSEN2): c.141_143delCAA (p.Asn48del) deletion Likely pathogenic rs797046052 GRCh38 Chromosome 3, 12489941: 12489943
6 TSEN2 NM_025265.3(TSEN2): c.1337A> G (p.Gln446Arg) single nucleotide variant Likely pathogenic rs797046051 GRCh38 Chromosome 3, 12531658: 12531658

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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