MCID: PNT044
MIFTS: 31

Pontocerebellar Hypoplasia, Type 2a

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 73
Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy 57 75
Volendam Neurodegenerative Disease 57 75
Pch2a 57 75
Pch2 57 75
Hypoplasia, Pontocerebellar, Type 2a 40
Pontocerebellar Hypoplasia 2a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur


HPO:

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


Classifications:



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, and has symptoms including muscle spasticity, seizures and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2a is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include spinal cord, cerebellum and pons, and related phenotypes are microcephaly and progressive microcephaly

UniProtKB/Swiss-Prot : 75 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.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
opisthotonus
extrapyramidal dyskinesia
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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2a:

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

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2a:


muscle spasticity, seizures, opisthotonus

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.62 LLGL2 TSEN54

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, Pons, Cortex

Publications for Pontocerebellar Hypoplasia, Type 2a

Articles related to Pontocerebellar Hypoplasia, Type 2a:

# Title Authors Year
1
Natural course of pontocerebellar hypoplasia type 2A. ( 24886362 )
2014

Variations for Pontocerebellar Hypoplasia, Type 2a

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

75
# Symbol AA change Variation ID SNP ID
1 TSEN54 p.Ala307Ser VAR_054813 rs113994152
2 TSEN54 p.Tyr119Asp VAR_073351

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 TSEN54 NM_207346.2(TSEN54): c.277T> C (p.Ser93Pro) single nucleotide variant Pathogenic rs113994151 GRCh37 Chromosome 17, 73513145: 73513145
4 TSEN54 NM_207346.2(TSEN54): c.277T> C (p.Ser93Pro) single nucleotide variant Pathogenic rs113994151 GRCh38 Chromosome 17, 75517064: 75517064
5 TSEN54 NM_207346.2(TSEN54): c.819delG (p.Val275Trpfs) deletion Pathogenic rs797046057 GRCh38 Chromosome 17, 75521900: 75521900
6 TSEN54 NM_207346.2(TSEN54): c.819delG (p.Val275Trpfs) deletion Pathogenic rs797046057 GRCh37 Chromosome 17, 73517981: 73517981
7 TSEN54 NM_207346.2(TSEN54): c.1386_1387insTA (p.Lys463Terfs) insertion Pathogenic rs797046054 GRCh38 Chromosome 17, 75523735: 75523736
8 TSEN54 NM_207346.2(TSEN54): c.1386_1387insTA (p.Lys463Terfs) insertion Pathogenic rs797046054 GRCh37 Chromosome 17, 73519816: 73519817
9 TSEN54 NM_207346.2(TSEN54): c.1397dupC (p.Gly467Trpfs) duplication Pathogenic rs797046055 GRCh37 Chromosome 17, 73519827: 73519827
10 TSEN54 NM_207346.2(TSEN54): c.1397dupC (p.Gly467Trpfs) duplication Pathogenic rs797046055 GRCh38 Chromosome 17, 75523746: 75523746
11 TSEN54 NM_207346.2(TSEN54): c.371G> T (p.Gly124Val) single nucleotide variant Likely pathogenic rs774157225 GRCh37 Chromosome 17, 73513639: 73513639
12 TSEN54 NM_207346.2(TSEN54): c.371G> T (p.Gly124Val) single nucleotide variant Likely pathogenic rs774157225 GRCh38 Chromosome 17, 75517558: 75517558

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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