PCH2C
MCID: PNT048
MIFTS: 22

Pontocerebellar Hypoplasia, Type 2c (PCH2C)

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 2c

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2c:

Name: Pontocerebellar Hypoplasia, Type 2c 57
Pontocerebellar Hypoplasia Type 2c 57 12 29 13 6 44 70
Pch2c 57 72
Hypoplasia, Pontocerebellar, Type 2c 39
Pontocerebellar Hypoplasia 2c 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
pontocerebellar hypoplasia, type 2c:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060269
OMIM® 57 612390
OMIM Phenotypic Series 57 PS607596
MedGen 41 C2676465
UMLS 70 C2676465

Summaries for Pontocerebellar Hypoplasia, Type 2c

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). (612390) (Updated 05-Apr-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2c, is also known as pontocerebellar hypoplasia type 2c. An important gene associated with Pontocerebellar Hypoplasia, Type 2c is TSEN34 (TRNA Splicing Endonuclease Subunit 34). Affiliated tissues include cerebellum and spinal cord, and related phenotypes are chorea and microcephaly

Disease Ontology : 12 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has material basis in autosomal recessive inheritance of mutation in the TSEN34 gene.

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 2C: 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 2c

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2c:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 chorea 31 HP:0002072
2 microcephaly 31 HP:0000252
3 visual impairment 31 HP:0000505
4 dystonia 31 HP:0001332
5 cerebellar vermis hypoplasia 31 HP:0001320
6 cerebellar hemisphere hypoplasia 31 HP:0100307

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
pontocerebellar hypoplasia

Clinical features from OMIM®:

612390 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2c

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

Cochrane evidence based reviews: pontocerebellar hypoplasia type 2c

Genetic Tests for Pontocerebellar Hypoplasia, Type 2c

Genetic tests related to Pontocerebellar Hypoplasia, Type 2c:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2c 29 TSEN34

Anatomical Context for Pontocerebellar Hypoplasia, Type 2c

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

40
Cerebellum, Spinal Cord

Publications for Pontocerebellar Hypoplasia, Type 2c

Articles related to Pontocerebellar Hypoplasia, Type 2c:

# Title Authors PMID Year
1
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 6 57
18711368 2008
2
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 57
8147499 1993

Variations for Pontocerebellar Hypoplasia, Type 2c

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSEN34 NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) SNV Pathogenic 2124 rs113994150 GRCh37: 19:54695387-54695387
GRCh38: 19:54191536-54191536
2 TSEN34 NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) Duplication Likely pathogenic 804160 rs1246937494 GRCh37: 19:54697144-54697145
GRCh38: 19:54193289-54193290
3 TSEN34 NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) SNV Uncertain significance 212447 rs202245444 GRCh37: 19:54695720-54695720
GRCh38: 19:54191869-54191869
4 TSEN34 NM_001077446.4(TSEN34):c.468G>C (p.Ser156=) SNV Uncertain significance 160121 rs376153530 GRCh37: 19:54695796-54695796
GRCh38: 19:54191945-54191945

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

72
# Symbol AA change Variation ID SNP ID
1 TSEN34 p.Arg58Trp VAR_054811 rs113994150

Expression for Pontocerebellar Hypoplasia, Type 2c

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

Pathways for Pontocerebellar Hypoplasia, Type 2c

GO Terms for Pontocerebellar Hypoplasia, Type 2c

Sources for Pontocerebellar Hypoplasia, Type 2c

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