MCID: PNT048
MIFTS: 24

Pontocerebellar Hypoplasia, Type 2c

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 73
Pch2c 57 75
Hypoplasia, Pontocerebellar, Type 2c 40
Pontocerebellar Hypoplasia 2c 75

Characteristics:

HPO:

32
pontocerebellar hypoplasia, type 2c:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612390
Disease Ontology 12 DOID:0060269
MedGen 42 C2676465
UMLS 73 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)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2c, also known as pontocerebellar hypoplasia type 2c, is related to mental retardation, autosomal recessive 57 and pontoneocerebellar hypoplasia. An important gene associated with Pontocerebellar Hypoplasia, Type 2c is TSEN34 (TRNA Splicing Endonuclease Subunit 34). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are microcephaly and visual impairment

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

612390

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2c:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 visual impairment 32 HP:0000505
3 cerebellar vermis hypoplasia 32 HP:0001320
4 dystonia 32 HP:0001332
5 chorea 32 HP:0002072
6 cerebellar hemisphere hypoplasia 32 HP:0100307

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 2c according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 MBOAT7 TSEN34
2 Decreased shRNA abundance GR00251-A-2 9.23 MBOAT7 TSEN34

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:

41
Spinal Cord, Cerebellum

Publications for Pontocerebellar Hypoplasia, Type 2c

Variations for Pontocerebellar Hypoplasia, Type 2c

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

75
# Symbol AA change Variation ID SNP ID
1 TSEN34 p.Arg58Trp VAR_054811 rs113994150

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN34 NM_024075.4(TSEN34): c.172C> T (p.Arg58Trp) single nucleotide variant Pathogenic rs113994150 GRCh37 Chromosome 19, 54695387: 54695387
2 TSEN34 NM_024075.4(TSEN34): c.172C> T (p.Arg58Trp) single nucleotide variant Pathogenic rs113994150 GRCh38 Chromosome 19, 54191536: 54191536
3 TSEN34 NM_024075.4(TSEN34): c.468G> C (p.Ser156=) single nucleotide variant Uncertain significance rs376153530 GRCh37 Chromosome 19, 54695796: 54695796
4 TSEN34 NM_024075.4(TSEN34): c.468G> C (p.Ser156=) single nucleotide variant Uncertain significance rs376153530 GRCh38 Chromosome 19, 54191945: 54191945

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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