MCID: PNT016
MIFTS: 20

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 are tRNA processing and Transcription of tRNA. Affiliated tissues include 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
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 500)
# Gene Variation Type Significance SNP ID Assembly Location
1 RARS2; SLC35A1 NM_006416.4(SLC35A1): c.887-14T> C single nucleotide variant Benign/Likely benign rs56136150 GRCh37 Chromosome 6, 88221103: 88221103
2 RARS2; SLC35A1 NM_006416.4(SLC35A1): c.887-14T> C single nucleotide variant Benign/Likely benign rs56136150 GRCh38 Chromosome 6, 87511385: 87511385
3 TSEN2 NM_025265.3(TSEN2): c.377G> A (p.Arg126His) single nucleotide variant Benign rs33955793 GRCh37 Chromosome 3, 12544829: 12544829
4 TSEN2 NM_025265.3(TSEN2): c.377G> A (p.Arg126His) single nucleotide variant Benign rs33955793 GRCh38 Chromosome 3, 12503330: 12503330
5 TSEN54 NM_207346.2(TSEN54): c.1111G> A (p.Glu371Lys) single nucleotide variant Uncertain significance rs398124621 GRCh37 Chromosome 17, 73518273: 73518273
6 TSEN54 NM_207346.2(TSEN54): c.1111G> A (p.Glu371Lys) single nucleotide variant Uncertain significance rs398124621 GRCh38 Chromosome 17, 75522192: 75522192
7 TSEN54 NM_207346.2(TSEN54): c.1122G> C (p.Arg374=) single nucleotide variant Benign rs6501820 GRCh37 Chromosome 17, 73518284: 73518284
8 TSEN54 NM_207346.2(TSEN54): c.1122G> C (p.Arg374=) single nucleotide variant Benign rs6501820 GRCh38 Chromosome 17, 75522203: 75522203
9 TSEN54 NM_207346.2(TSEN54): c.114T> G (p.His38Gln) single nucleotide variant Benign rs8079373 GRCh37 Chromosome 17, 73512884: 73512884
10 TSEN54 NM_207346.2(TSEN54): c.114T> G (p.His38Gln) single nucleotide variant Benign rs8079373 GRCh38 Chromosome 17, 75516803: 75516803
11 TSEN54 NM_207346.2(TSEN54): c.1166A> C (p.Gln389Pro) single nucleotide variant Benign/Likely benign rs77247739 GRCh37 Chromosome 17, 73518328: 73518328
12 TSEN54 NM_207346.2(TSEN54): c.1166A> C (p.Gln389Pro) single nucleotide variant Benign/Likely benign rs77247739 GRCh38 Chromosome 17, 75522247: 75522247
13 TSEN54 NM_207346.2(TSEN54): c.12G> T (p.Glu4Asp) single nucleotide variant Benign rs7216673 GRCh37 Chromosome 17, 73512653: 73512653
14 TSEN54 NM_207346.2(TSEN54): c.12G> T (p.Glu4Asp) single nucleotide variant Benign rs7216673 GRCh38 Chromosome 17, 75516572: 75516572
15 TSEN54 NM_207346.2(TSEN54): c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro) duplication Conflicting interpretations of pathogenicity rs398124622 GRCh37 Chromosome 17, 73512644: 73512649
16 TSEN54 NM_207346.2(TSEN54): c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro) duplication Conflicting interpretations of pathogenicity rs398124622 GRCh38 Chromosome 17, 75516563: 75516568
17 EXOSC3 NM_016042.3(EXOSC3): c.498G> A (p.Gln166=) single nucleotide variant Benign rs7158 GRCh37 Chromosome 9, 37782111: 37782111
18 EXOSC3 NM_016042.3(EXOSC3): c.498G> A (p.Gln166=) single nucleotide variant Benign rs7158 GRCh38 Chromosome 9, 37782114: 37782114
19 EXOSC3 NM_016042.3(EXOSC3): c.673T> C (p.Tyr225His) single nucleotide variant Benign/Likely benign rs3208406 GRCh37 Chromosome 9, 37780831: 37780831
20 EXOSC3 NM_016042.3(EXOSC3): c.673T> C (p.Tyr225His) single nucleotide variant Benign/Likely benign rs3208406 GRCh38 Chromosome 9, 37780834: 37780834
21 RARS2 NM_020320.4(RARS2): c.155A> T (p.Lys52Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs73496064 GRCh37 Chromosome 6, 88273906: 88273906
22 RARS2 NM_020320.4(RARS2): c.155A> T (p.Lys52Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs73496064 GRCh38 Chromosome 6, 87564188: 87564188
23 RARS2; SLC35A1 NM_020320.4(RARS2): c.1704A> G (p.Lys568=) single nucleotide variant Likely benign rs8802 GRCh37 Chromosome 6, 88224164: 88224164
24 RARS2; SLC35A1 NM_020320.4(RARS2): c.1704A> G (p.Lys568=) single nucleotide variant Likely benign rs8802 GRCh38 Chromosome 6, 87514446: 87514446
25 RARS2 NM_020320.4(RARS2): c.606C> T (p.Leu202=) single nucleotide variant Benign/Likely benign rs75794097 GRCh37 Chromosome 6, 88251642: 88251642
26 RARS2 NM_020320.4(RARS2): c.606C> T (p.Leu202=) single nucleotide variant Benign/Likely benign rs75794097 GRCh38 Chromosome 6, 87541924: 87541924
27 RARS2 NM_020320.4(RARS2): c.63A> G (p.Pro21=) single nucleotide variant Benign/Likely benign rs7748563 GRCh37 Chromosome 6, 88279282: 88279282
28 RARS2 NM_020320.4(RARS2): c.63A> G (p.Pro21=) single nucleotide variant Benign/Likely benign rs7748563 GRCh38 Chromosome 6, 87569564: 87569564
29 RARS2 NM_020320.4(RARS2): c.703G> A (p.Val235Met) single nucleotide variant Benign/Likely benign rs35862137 GRCh37 Chromosome 6, 88240570: 88240570
30 RARS2 NM_020320.4(RARS2): c.703G> A (p.Val235Met) single nucleotide variant Benign/Likely benign rs35862137 GRCh38 Chromosome 6, 87530852: 87530852
31 RARS2 NM_020320.4(RARS2): c.872A> G (p.Lys291Arg) single nucleotide variant Likely benign rs17850652 GRCh37 Chromosome 6, 88239266: 88239266
32 RARS2 NM_020320.4(RARS2): c.872A> G (p.Lys291Arg) single nucleotide variant Likely benign rs17850652 GRCh38 Chromosome 6, 87529548: 87529548
33 RARS2 NM_020320.4(RARS2): c.991A> G (p.Ile331Val) single nucleotide variant Benign/Likely benign rs3757370 GRCh37 Chromosome 6, 88231226: 88231226
34 RARS2 NM_020320.4(RARS2): c.991A> G (p.Ile331Val) single nucleotide variant Benign/Likely benign rs3757370 GRCh38 Chromosome 6, 87521508: 87521508
35 SEPSECS NM_016955.3(SEPSECS): c.780A> G (p.Ser260=) single nucleotide variant Conflicting interpretations of pathogenicity rs61747281 GRCh37 Chromosome 4, 25153606: 25153606
36 SEPSECS NM_016955.3(SEPSECS): c.780A> G (p.Ser260=) single nucleotide variant Conflicting interpretations of pathogenicity rs61747281 GRCh38 Chromosome 4, 25151984: 25151984
37 SEPSECS NM_016955.3(SEPSECS): c.1211+7A> G single nucleotide variant Benign/Likely benign rs17408685 GRCh37 Chromosome 4, 25127309: 25127309
38 SEPSECS NM_016955.3(SEPSECS): c.1211+7A> G single nucleotide variant Benign/Likely benign rs17408685 GRCh38 Chromosome 4, 25125687: 25125687
39 SEPSECS NM_016955.3(SEPSECS): c.1356G> C (p.Lys452Asn) single nucleotide variant Benign/Likely benign rs2302566 GRCh37 Chromosome 4, 25125703: 25125703
40 SEPSECS NM_016955.3(SEPSECS): c.1356G> C (p.Lys452Asn) single nucleotide variant Benign/Likely benign rs2302566 GRCh38 Chromosome 4, 25124081: 25124081
41 SEPSECS NM_016955.3(SEPSECS): c.935-5T> G single nucleotide variant Benign/Likely benign rs2302564 GRCh37 Chromosome 4, 25146492: 25146492
42 SEPSECS NM_016955.3(SEPSECS): c.935-5T> G single nucleotide variant Benign/Likely benign rs2302564 GRCh38 Chromosome 4, 25144870: 25144870
43 VRK1 NM_003384.2(VRK1): c.858G> T (p.Met286Ile) single nucleotide variant Uncertain significance rs139476915 GRCh37 Chromosome 14, 97322892: 97322892
44 VRK1 NM_003384.2(VRK1): c.858G> T (p.Met286Ile) single nucleotide variant Uncertain significance rs139476915 GRCh38 Chromosome 14, 96856555: 96856555
45 VRK1 NM_003384.2(VRK1): c.45A> G (p.Ala15=) single nucleotide variant Benign rs2145635 GRCh37 Chromosome 14, 97299853: 97299853
46 VRK1 NM_003384.2(VRK1): c.45A> G (p.Ala15=) single nucleotide variant Benign rs2145635 GRCh38 Chromosome 14, 96833516: 96833516
47 VRK1 NM_003384.2(VRK1): c.705C> T (p.Gly235=) single nucleotide variant Benign rs2230532 GRCh37 Chromosome 14, 97321689: 97321689
48 VRK1 NM_003384.2(VRK1): c.705C> T (p.Gly235=) single nucleotide variant Benign rs2230532 GRCh38 Chromosome 14, 96855352: 96855352
49 TSEN54 NM_207346.2(TSEN54): c.568G> A (p.Val190Met) single nucleotide variant Benign/Likely benign rs79508780 GRCh37 Chromosome 17, 73517536: 73517536
50 TSEN2 NM_025265.3(TSEN2): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs77899976 GRCh37 Chromosome 3, 12544779: 12544779

Expression for Pontoneocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontoneocerebellar Hypoplasia.

Pathways for Pontoneocerebellar Hypoplasia

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 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 9.43 TSEN2 TSEN34 TSEN54
2 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.33 TSEN2 TSEN34 TSEN54
3 RNA phosphodiester bond hydrolysis GO:0090501 9.32 TSEN2 TSEN34
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 binding GO:0000049 8.96 SEPSECS TRMT10B
2 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
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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