MCID: PNT016
MIFTS: 21

Pontoneocerebellar Hypoplasia

Categories: Rare diseases

Aliases & Classifications for Pontoneocerebellar Hypoplasia

MalaCards integrated aliases for Pontoneocerebellar Hypoplasia:

Name: Pontoneocerebellar Hypoplasia 53 29 6 73

Classifications:



External Ids:

UMLS 73 C1261175

Summaries for Pontoneocerebellar Hypoplasia

MalaCards based summary : Pontoneocerebellar Hypoplasia is related to pontocerebellar hypoplasia and mental retardation, autosomal recessive 57. An important gene associated with Pontoneocerebellar Hypoplasia is TBC1D23 (TBC1 Domain Family Member 23), and among its related pathways/superpathways is tRNA processing. Affiliated tissues include cerebellum and brain.

Related Diseases for Pontoneocerebellar Hypoplasia

Graphical network of the top 20 diseases related to Pontoneocerebellar Hypoplasia:



Diseases related to Pontoneocerebellar Hypoplasia

Symptoms & Phenotypes for Pontoneocerebellar Hypoplasia

Drugs & Therapeutics for Pontoneocerebellar Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Outcome of Newborns With an Isolated Small Cerebellum Not yet recruiting NCT03572868

Search NIH Clinical Center for Pontoneocerebellar Hypoplasia

Genetic Tests for Pontoneocerebellar Hypoplasia

Genetic tests related to Pontoneocerebellar Hypoplasia:

# Genetic test Affiliating Genes
1 Pontoneocerebellar Hypoplasia 29

Anatomical Context for Pontoneocerebellar Hypoplasia

MalaCards organs/tissues related to Pontoneocerebellar Hypoplasia:

41
Cerebellum, Brain

Publications for Pontoneocerebellar Hypoplasia

Articles related to Pontoneocerebellar Hypoplasia:

# Title Authors Year
1
Pontoneocerebellar hypoplasia: definition of MR features. ( 11511999 )
2001
2
Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? ( 7985567 )
1994
3
Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. ( 2407401 )
1990
4
Pontoneocerebellar hypoplasia--a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. ( 6478678 )
1984

Variations for Pontoneocerebellar Hypoplasia

ClinVar genetic disease variations for Pontoneocerebellar Hypoplasia:

6
(show top 50) (show all 424)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN2 NM_025265.3(TSEN2): c.272-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs41293385 GRCh37 Chromosome 3, 12538013: 12538013
2 TSEN2 NM_025265.3(TSEN2): c.272-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs41293385 GRCh38 Chromosome 3, 12496514: 12496514
3 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh37 Chromosome 3, 12544774: 12544774
4 TSEN2 NM_025265.3(TSEN2): c.322G> T (p.Val108Phe) single nucleotide variant Uncertain significance rs202097247 GRCh38 Chromosome 3, 12503275: 12503275
5 TSEN2 NM_025265.3(TSEN2): c.389A> C (p.Lys130Thr) single nucleotide variant Benign/Likely benign rs142211875 GRCh37 Chromosome 3, 12544841: 12544841
6 TSEN2 NM_025265.3(TSEN2): c.389A> C (p.Lys130Thr) single nucleotide variant Benign/Likely benign rs142211875 GRCh38 Chromosome 3, 12503342: 12503342
7 TSEN2 NM_025265.3(TSEN2): c.560G> C (p.Arg187Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146117200 GRCh37 Chromosome 3, 12545012: 12545012
8 TSEN2 NM_025265.3(TSEN2): c.560G> C (p.Arg187Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146117200 GRCh38 Chromosome 3, 12503513: 12503513
9 TSEN2 NM_025265.3(TSEN2): c.1332A> G (p.Lys444=) single nucleotide variant Conflicting interpretations of pathogenicity rs113981920 GRCh37 Chromosome 3, 12573152: 12573152
10 TSEN2 NM_025265.3(TSEN2): c.1332A> G (p.Lys444=) single nucleotide variant Conflicting interpretations of pathogenicity rs113981920 GRCh38 Chromosome 3, 12531653: 12531653
11 TSEN2 NM_025265.3(TSEN2): c.1350G> A (p.Leu450=) single nucleotide variant Benign/Likely benign rs116627250 GRCh37 Chromosome 3, 12574172: 12574172
12 TSEN2 NM_025265.3(TSEN2): c.1350G> A (p.Leu450=) single nucleotide variant Benign/Likely benign rs116627250 GRCh38 Chromosome 3, 12532673: 12532673
13 TSEN54 NM_207346.2(TSEN54): c.409A> C (p.Ile137Leu) single nucleotide variant Benign/Likely benign rs11559205 GRCh37 Chromosome 17, 73513677: 73513677
14 TSEN54 NM_207346.2(TSEN54): c.409A> C (p.Ile137Leu) single nucleotide variant Benign/Likely benign rs11559205 GRCh38 Chromosome 17, 75517596: 75517596
15 TSEN54 NM_207346.2(TSEN54): c.624-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138719855 GRCh37 Chromosome 17, 73517777: 73517777
16 TSEN54 NM_207346.2(TSEN54): c.624-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138719855 GRCh38 Chromosome 17, 75521696: 75521696
17 TSEN54 NM_207346.2(TSEN54): c.1041G> C (p.Lys347Asn) single nucleotide variant Benign rs9911502 GRCh37 Chromosome 17, 73518203: 73518203
18 TSEN54 NM_207346.2(TSEN54): c.1041G> C (p.Lys347Asn) single nucleotide variant Benign rs9911502 GRCh38 Chromosome 17, 75522122: 75522122
19 TSEN54 NM_207346.2(TSEN54): c.1114G> A (p.Val372Met) single nucleotide variant Uncertain significance rs200434678 GRCh37 Chromosome 17, 73518276: 73518276
20 TSEN54 NM_207346.2(TSEN54): c.1114G> A (p.Val372Met) single nucleotide variant Uncertain significance rs200434678 GRCh38 Chromosome 17, 75522195: 75522195
21 TSEN54 NM_207346.2(TSEN54): c.1310C> T (p.Ala437Val) single nucleotide variant Benign rs8064529 GRCh37 Chromosome 17, 73519413: 73519413
22 TSEN54 NM_207346.2(TSEN54): c.1310C> T (p.Ala437Val) single nucleotide variant Benign rs8064529 GRCh38 Chromosome 17, 75523332: 75523332
23 TSEN54 NM_207346.2(TSEN54): c.1468C> T (p.Arg490Trp) single nucleotide variant Benign/Likely benign rs144662042 GRCh37 Chromosome 17, 73520380: 73520380
24 TSEN54 NM_207346.2(TSEN54): c.1468C> T (p.Arg490Trp) single nucleotide variant Benign/Likely benign rs144662042 GRCh38 Chromosome 17, 75524299: 75524299
25 TSEN34 NM_024075.4(TSEN34): c.39G> A (p.Val13=) single nucleotide variant Conflicting interpretations of pathogenicity rs184898622 GRCh37 Chromosome 19, 54695254: 54695254
26 TSEN34 NM_024075.4(TSEN34): c.39G> A (p.Val13=) single nucleotide variant Conflicting interpretations of pathogenicity rs184898622 GRCh38 Chromosome 19, 54191403: 54191403
27 TSEN34 NM_024075.4(TSEN34): c.795T= (p.Pro265=) single nucleotide variant Benign rs7595 GRCh37 Chromosome 19, 54697079: 54697079
28 TSEN34 NM_024075.4(TSEN34): c.795T= (p.Pro265=) single nucleotide variant Benign rs7595 GRCh38 Chromosome 19, 54193224: 54193224
29 TSEN2 NM_025265.3(TSEN2): c.309G> A (p.Arg103=) single nucleotide variant Uncertain significance rs148549222 GRCh37 Chromosome 3, 12544761: 12544761
30 TSEN2 NM_025265.3(TSEN2): c.309G> A (p.Arg103=) single nucleotide variant Uncertain significance rs148549222 GRCh38 Chromosome 3, 12503262: 12503262
31 TSEN54 NM_207346.2(TSEN54): c.1368C> T (p.Asp456=) single nucleotide variant Conflicting interpretations of pathogenicity rs138560086 GRCh37 Chromosome 17, 73519798: 73519798
32 TSEN54 NM_207346.2(TSEN54): c.1368C> T (p.Asp456=) single nucleotide variant Conflicting interpretations of pathogenicity rs138560086 GRCh38 Chromosome 17, 75523717: 75523717
33 TSEN54 NM_207346.2(TSEN54): c.325C> G (p.Arg109Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148146916 GRCh37 Chromosome 17, 73513281: 73513281
34 TSEN54 NM_207346.2(TSEN54): c.325C> G (p.Arg109Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148146916 GRCh38 Chromosome 17, 75517200: 75517200
35 TSEN54 NM_207346.2(TSEN54): c.984T> C (p.Ala328=) single nucleotide variant Conflicting interpretations of pathogenicity rs776960594 GRCh37 Chromosome 17, 73518146: 73518146
36 TSEN54 NM_207346.2(TSEN54): c.984T> C (p.Ala328=) single nucleotide variant Conflicting interpretations of pathogenicity rs776960594 GRCh38 Chromosome 17, 75522065: 75522065
37 TSEN54 NM_207346.2(TSEN54): c.83C> T (p.Ser28Leu) single nucleotide variant Uncertain significance rs201089582 GRCh37 Chromosome 17, 73512853: 73512853
38 TSEN54 NM_207346.2(TSEN54): c.83C> T (p.Ser28Leu) single nucleotide variant Uncertain significance rs201089582 GRCh38 Chromosome 17, 75516772: 75516772
39 TSEN54 NM_207346.2(TSEN54): c.1167G> C (p.Gln389His) single nucleotide variant Uncertain significance rs369805010 GRCh37 Chromosome 17, 73518329: 73518329
40 TSEN54 NM_207346.2(TSEN54): c.1167G> C (p.Gln389His) single nucleotide variant Uncertain significance rs369805010 GRCh38 Chromosome 17, 75522248: 75522248
41 RARS2 NM_020320.4(RARS2): c.1637C> T (p.Pro546Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142348911 GRCh37 Chromosome 6, 88224688: 88224688
42 RARS2 NM_020320.4(RARS2): c.1637C> T (p.Pro546Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142348911 GRCh38 Chromosome 6, 87514970: 87514970
43 RARS2 NM_020320.4(RARS2): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs760844669 GRCh37 Chromosome 6, 88227959: 88227959
44 RARS2 NM_020320.4(RARS2): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs760844669 GRCh38 Chromosome 6, 87518241: 87518241
45 RARS2 NM_020320.4(RARS2): c.1366C> T (p.Arg456Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147844153 GRCh37 Chromosome 6, 88228397: 88228397
46 RARS2 NM_020320.4(RARS2): c.1366C> T (p.Arg456Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147844153 GRCh38 Chromosome 6, 87518679: 87518679
47 RARS2 NM_020320.4(RARS2): c.818G> T (p.Arg273Leu) single nucleotide variant Uncertain significance rs139721632 GRCh37 Chromosome 6, 88239320: 88239320
48 RARS2 NM_020320.4(RARS2): c.818G> T (p.Arg273Leu) single nucleotide variant Uncertain significance rs139721632 GRCh38 Chromosome 6, 87529602: 87529602
49 RARS2 NM_020320.4(RARS2): c.818G> C (p.Arg273Pro) single nucleotide variant Uncertain significance rs139721632 GRCh37 Chromosome 6, 88239320: 88239320
50 RARS2 NM_020320.4(RARS2): c.818G> C (p.Arg273Pro) single nucleotide variant Uncertain significance rs139721632 GRCh38 Chromosome 6, 87529602: 87529602

Expression for Pontoneocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontoneocerebellar Hypoplasia.

Pathways for Pontoneocerebellar Hypoplasia

Pathways related to Pontoneocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 TSEN2 TSEN34 TSEN54

GO Terms for Pontoneocerebellar Hypoplasia

Cellular components related to Pontoneocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.35 EXOSC3 TSEN2 TSEN34 TSEN54 VRK1
2 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN2 TSEN34 TSEN54

Biological processes related to Pontoneocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 9.5 TSEN2 TSEN34 TSEN54
2 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.43 TSEN2 TSEN34 TSEN54
3 RNA phosphodiester bond hydrolysis GO:0090501 9.33 TSEN2 TSEN34 TSEN54
4 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.13 TSEN2 TSEN34 TSEN54
5 tRNA-type intron splice site recognition and cleavage GO:0000379 8.8 TSEN2 TSEN34 TSEN54

Molecular functions related to Pontoneocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA-intron endonuclease activity GO:0000213 8.8 TSEN2 TSEN34 TSEN54

Sources for Pontoneocerebellar Hypoplasia

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
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49 NCI
50 NCIt
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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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