PCH2A
MCID: PNT044
MIFTS: 33

Pontocerebellar Hypoplasia, Type 2a (PCH2A)

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 2a

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2a:

Name: Pontocerebellar Hypoplasia, Type 2a 57
Pontocerebellar Hypoplasia Type 2a 57 12 29 13 6 44 15 72
Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy 57 74
Volendam Neurodegenerative Disease 57 74
Pch2a 57 74
Pch2 57 74
Hypoplasia, Pontocerebellar, Type 2a 40
Pontocerebellar Hypoplasia 2a 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur


HPO:

32
pontocerebellar hypoplasia, type 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset
Clinical modifier death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:0060267
MedGen 42 C1848526
UMLS 72 C1848526

Summaries for Pontocerebellar Hypoplasia, Type 2a

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). (277470)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2a, also known as pontocerebellar hypoplasia type 2a, is related to pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia, type 2d, and has symptoms including seizures, opisthotonus and muscle spasticity. An important gene associated with Pontocerebellar Hypoplasia, Type 2a is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include spinal cord, cerebellum and cortex, and related phenotypes are cerebral cortical atrophy and seizures

Disease Ontology : 12 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has material basis in autosomal recessive inheritance of mutation in the TSEN54 gene.

UniProtKB/Swiss-Prot : 74 Pontocerebellar hypoplasia 2A: 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.

Related Diseases for Pontocerebellar Hypoplasia, Type 2a

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 2e 11.8
2 pontocerebellar hypoplasia, type 2d 11.2
3 pontocerebellar hypoplasia, type 2f 11.2
4 gastroesophageal reflux 10.2
5 pontocerebellar hypoplasia 10.2
6 status epilepticus 10.2
7 sleep disorder 10.2
8 microcephaly 10.2
9 spasticity 10.2
10 pontocerebellar hypoplasia, type 1a 10.1
11 colon adenocarcinoma 10.1
12 breast adenocarcinoma 10.1
13 pontocerebellar hypoplasia type 1 10.1
14 hypertonia 10.1
15 thyroid carcinoma 10.1
16 pontocerebellar hypoplasia, type 4 9.4 TSEN54 CASKIN2
17 pontoneocerebellar hypoplasia 8.4 TSEN54 LOC107985023 LLGL2 CASKIN2

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 2a:



Diseases related to Pontocerebellar Hypoplasia, Type 2a

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2a

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2a:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
2 seizures 32 HP:0001250
3 microcephaly 32 HP:0000252
4 visual impairment 32 HP:0000505
5 feeding difficulties in infancy 32 HP:0008872
6 severe global developmental delay 32 HP:0011344
7 cerebellar hypoplasia 32 HP:0001321
8 restlessness 32 HP:0000711
9 poor suck 32 HP:0002033
10 abnormality of the periventricular white matter 32 HP:0002518
11 gliosis 32 HP:0002171
12 extrapyramidal dyskinesia 32 HP:0007308
13 opisthotonus 32 HP:0002179
14 hypoplasia of the pons 32 HP:0012110
15 impaired smooth pursuit 32 HP:0007772
16 progressive microcephaly 32 HP:0000253

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
extrapyramidal dyskinesia
opisthotonus
cerebellar cortex shows normal layers
more
Head And Neck Head:
microcephaly, progressive

Head And Neck Eyes:
central visual impairment
abnormal visual pursuit

Abdomen Gastrointestinal:
poor feeding
poor sucking

Muscle Soft Tissue:
hypertonia at birth

Clinical features from OMIM:

277470

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2a:


seizures, opisthotonus, muscle spasticity

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2a

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

Cochrane evidence based reviews: pontocerebellar hypoplasia type 2a

Genetic Tests for Pontocerebellar Hypoplasia, Type 2a

Genetic tests related to Pontocerebellar Hypoplasia, Type 2a:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2a 29 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia, Type 2a

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

41
Spinal Cord, Cerebellum, Cortex, Pons

Publications for Pontocerebellar Hypoplasia, Type 2a

Articles related to Pontocerebellar Hypoplasia, Type 2a:

(show all 11)
# Title Authors PMID Year
1
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 8 71
20956791 2010
2
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 8 71
18711368 2008
3
TSEN54 mutations cause pontocerebellar hypoplasia type 5. 71
21368912 2011
4
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 8
20952379 2011
5
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? 8
20803644 2010
6
TSEN54-Related Pontocerebellar Hypoplasia 71
20301773 2009
7
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. 8
7854532 1995
8
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 8
8147499 1993
9
Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. 8
2370559 1990
10
Cerebellar hypoplasia associated with systemic degeneration in early life. 8
13576165 1958
11
Natural course of pontocerebellar hypoplasia type 2A. 38
24886362 2014

Variations for Pontocerebellar Hypoplasia, Type 2a

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSEN54 NM_207346.3(TSEN54): c.940del (p.Leu314fs) deletion Pathogenic 17:73518100-73518100 17:75522019-75522019
2 TSEN54 NM_207346.3(TSEN54): c.277T> C (p.Ser93Pro) single nucleotide variant Pathogenic rs113994151 17:73513145-73513145 17:75517064-75517064
3 TSEN54 NM_207346.3(TSEN54): c.1397dup (p.Gly467fs) duplication Pathogenic rs797046055 17:73519827-73519827 17:75523746-75523746
4 TSEN54 NM_207346.3(TSEN54): c.823del (p.Val275fs) deletion Pathogenic rs797046057 17:73517981-73517981 17:75521900-75521900
5 TSEN54 NM_207346.3(TSEN54): c.1386_1387insTA (p.Lys463Ter) insertion Pathogenic rs797046054 17:73519816-73519817 17:75523735-75523736
6 TSEN54 NM_207346.3(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 17:73518081-73518081 17:75522000-75522000
7 TSEN54 NM_207346.3(TSEN54): c.1535T> C (p.Phe512Ser) single nucleotide variant Likely pathogenic 17:73520447-73520447 17:75524366-75524366
8 TSEN54 NM_207346.3(TSEN54): c.371G> T (p.Gly124Val) single nucleotide variant Likely pathogenic rs774157225 17:73513639-73513639 17:75517558-75517558
9 TSEN54 NM_207346.3(TSEN54): c.83C> T (p.Ser28Leu) single nucleotide variant Uncertain significance rs201089582 17:73512853-73512853 17:75516772-75516772
10 TSEN54 NM_207346.3(TSEN54): c.622C> T (p.Arg208Trp) single nucleotide variant Uncertain significance rs147165460 17:73517590-73517590 17:75521509-75521509

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

74
# Symbol AA change Variation ID SNP ID
1 TSEN54 p.Ala307Ser VAR_054813 rs113994152
2 TSEN54 p.Tyr119Asp VAR_073351

Expression for Pontocerebellar Hypoplasia, Type 2a

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

Pathways for Pontocerebellar Hypoplasia, Type 2a

GO Terms for Pontocerebellar Hypoplasia, Type 2a

Sources for Pontocerebellar Hypoplasia, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....