MCID: PNT047
MIFTS: 24

Pontocerebellar Hypoplasia, Type 2b

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 2b

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2b:

Name: Pontocerebellar Hypoplasia, Type 2b 57
Pontocerebellar Hypoplasia Type 2b 57 12 29 13 6 44 73
Pch2b 57 75
Hypoplasia, Pontocerebellar, Type 2b 40
Pontocerebellar Hypoplasia 2b 75

Characteristics:

OMIM:

57
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 : 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). (612389)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2b, is also known as pontocerebellar hypoplasia type 2b, and has symptoms including clonus, muscle spasticity and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2b is TSEN2 (TRNA Splicing Endonuclease Subunit 2). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are progressive microcephaly and sloping forehead

UniProtKB/Swiss-Prot : 75 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:

57
Neurologic Central Nervous System:
spasticity
chorea
clonus
dystonia
opisthotonus
more
Head And Neck Face:
sloping forehead

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

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

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


Clinical features from OMIM:

612389

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2b:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 sloping forehead 32 HP:0000340
3 seizures 32 HP:0001250
4 generalized hypotonia 32 HP:0001290
5 cerebellar hypoplasia 32 HP:0001321
6 dystonia 32 HP:0001332
7 cerebral atrophy 32 occasional (7.5%) HP:0002059
8 chorea 32 HP:0002072
9 hypoplasia of the corpus callosum 32 HP:0002079
10 ventriculomegaly 32 occasional (7.5%) HP:0002119
11 clonus 32 HP:0002169
12 opisthotonus 32 HP:0002179
13 hypoplasia of the brainstem 32 HP:0002365
14 limb hypertonia 32 HP:0002509
15 babinski sign 32 HP:0003487
16 extrapyramidal dyskinesia 32 HP:0007308
17 muscular hypotonia of the trunk 32 HP:0008936
18 cortical gyral simplification 32 occasional (7.5%) HP:0009879
19 feeding difficulties 32 HP:0011968

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:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2b 29 TSEN2

Anatomical Context for Pontocerebellar Hypoplasia, Type 2b

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 TSEN2 p.Tyr309Cys VAR_054810 rs113994149

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

6
(show all 30)
# 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_025265.3(TSEN2): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs113994149 GRCh38 Chromosome 3, 12516627: 12516627
3 TSEN2 NM_025265.3(TSEN2): c.66A> C (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637658 GRCh37 Chromosome 3, 12531365: 12531365
4 TSEN2 NM_025265.3(TSEN2): c.66A> C (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637658 GRCh38 Chromosome 3, 12489866: 12489866
5 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh37 Chromosome 3, 12544774: 12544774
6 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh38 Chromosome 3, 12503275: 12503275
7 TSEN2 NM_025265.3(TSEN2): c.608C> T (p.Thr203Ile) single nucleotide variant Uncertain significance rs35557378 GRCh37 Chromosome 3, 12545060: 12545060
8 TSEN2 NM_025265.3(TSEN2): c.608C> T (p.Thr203Ile) single nucleotide variant Uncertain significance rs35557378 GRCh38 Chromosome 3, 12503561: 12503561
9 TSEN2 NM_025265.3(TSEN2): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs201214741 GRCh37 Chromosome 3, 12545105: 12545105
10 TSEN2 NM_025265.3(TSEN2): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs201214741 GRCh38 Chromosome 3, 12503606: 12503606
11 TSEN2 NM_025265.3(TSEN2): c.1013C> G (p.Thr338Arg) single nucleotide variant Uncertain significance rs145142315 GRCh37 Chromosome 3, 12560610: 12560610
12 TSEN2 NM_025265.3(TSEN2): c.1013C> G (p.Thr338Arg) single nucleotide variant Uncertain significance rs145142315 GRCh38 Chromosome 3, 12519111: 12519111
13 TSEN2 NM_025265.3(TSEN2): c.1272T> C (p.Ile424=) single nucleotide variant Uncertain significance rs111535594 GRCh37 Chromosome 3, 12573092: 12573092
14 TSEN2 NM_025265.3(TSEN2): c.1272T> C (p.Ile424=) single nucleotide variant Uncertain significance rs111535594 GRCh38 Chromosome 3, 12531593: 12531593
15 TSEN2 NM_025265.3(TSEN2): c.1389C> T (p.Asp463=) single nucleotide variant Uncertain significance rs75288720 GRCh37 Chromosome 3, 12574211: 12574211
16 TSEN2 NM_025265.3(TSEN2): c.1389C> T (p.Asp463=) single nucleotide variant Uncertain significance rs75288720 GRCh38 Chromosome 3, 12532712: 12532712
17 TSEN2 NM_001145394.1(TSEN2): c.783+1_783+5delGTAAG deletion Pathogenic rs886037738 GRCh38 Chromosome 3, 12516662: 12516666
18 TSEN2 NM_001145394.1(TSEN2): c.783+1_783+5delGTAAG deletion Pathogenic rs886037738 GRCh37 Chromosome 3, 12558161: 12558165
19 TSEN2 NM_001145394.1(TSEN2): c.757G> A (p.Gly253Arg) single nucleotide variant Pathogenic rs886037739 GRCh38 Chromosome 3, 12516635: 12516635
20 TSEN2 NM_001145394.1(TSEN2): c.757G> A (p.Gly253Arg) single nucleotide variant Pathogenic rs886037739 GRCh37 Chromosome 3, 12558134: 12558134
21 TSEN2 NM_001145392.1(TSEN2): c.691C> T (p.Gln231Ter) single nucleotide variant Pathogenic rs730880294 GRCh37 Chromosome 3, 12545143: 12545143
22 TSEN2 NM_001145392.1(TSEN2): c.691C> T (p.Gln231Ter) single nucleotide variant Pathogenic rs730880294 GRCh38 Chromosome 3, 12503644: 12503644
23 TSEN2 NM_001145394.1(TSEN2): c.141_143delCAA (p.Asn48del) deletion Likely pathogenic rs797046052 GRCh38 Chromosome 3, 12489941: 12489943
24 TSEN2 NM_001145394.1(TSEN2): c.141_143delCAA (p.Asn48del) deletion Likely pathogenic rs797046052 GRCh37 Chromosome 3, 12531440: 12531442
25 TSEN2 NM_025265.3(TSEN2): c.1337A> G (p.Gln446Arg) single nucleotide variant Likely pathogenic rs797046051 GRCh37 Chromosome 3, 12573157: 12573157
26 TSEN2 NM_025265.3(TSEN2): c.1337A> G (p.Gln446Arg) single nucleotide variant Likely pathogenic rs797046051 GRCh38 Chromosome 3, 12531658: 12531658
27 TSEN2 NM_001145394.1(TSEN2): c.353_354delAG (p.Gln118Argfs) deletion Likely pathogenic rs755246924 GRCh38 Chromosome 3, 12503306: 12503307
28 TSEN2 NM_001145394.1(TSEN2): c.353_354delAG (p.Gln118Argfs) deletion Likely pathogenic rs755246924 GRCh37 Chromosome 3, 12544805: 12544806
29 TSEN2 NM_025265.3(TSEN2): c.1037A> G (p.Tyr346Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 12519135: 12519135
30 TSEN2 NM_025265.3(TSEN2): c.1037A> G (p.Tyr346Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 12560634: 12560634

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

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