MCID: PNT016
MIFTS: 25

Pontoneocerebellar Hypoplasia

Categories: Rare diseases

Aliases & Classifications for Pontoneocerebellar Hypoplasia

MalaCards integrated aliases for Pontoneocerebellar Hypoplasia:

Name: Pontoneocerebellar Hypoplasia 53 29 6 72

Classifications:



External Ids:

UMLS 72 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

Search Clinical Trials , 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 PMID Year
1
Pontoneocerebellar hypoplasia: definition of MR features. 38
11511999 2001
2
Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? 38
7985567 1994
3
Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. 38
2407401 1990
4
Pontoneocerebellar hypoplasia--a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. 38
6478678 1984

Variations for Pontoneocerebellar Hypoplasia

ClinVar genetic disease variations for Pontoneocerebellar Hypoplasia:

6 (show top 50) (show all 252)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D23 NM_018309.5(TBC1D23): c.1473_1474TG[1] (p.Val492fs) short repeat Pathogenic rs1553730872 3:100029308-100029309 3:100310464-100310465
2 TBC1D23 NM_001199198.3(TBC1D23): c.1526delinsAA (p.Ile509fs) indel Pathogenic rs1553730885 3:100029359-100029359 3:100310515-100310515
3 TBC1D23 NM_018309.5(TBC1D23): c.1642+2T> G single nucleotide variant Pathogenic rs1553731605 3:100035033-100035033 3:100316189-100316189
4 TSEN54 NM_207346.3(TSEN54): c.3_8dup (p.2_3EP[4]) duplication Conflicting interpretations of pathogenicity rs398124622 17:73512644-73512649 17:75516563-75516568
5 RARS2 NM_020320.5(RARS2): c.155A> T (p.Lys52Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs73496064 6:88273906-88273906 6:87564188-87564188
6 SEPSECS NM_016955.4(SEPSECS): c.780A> G (p.Ser260=) single nucleotide variant Conflicting interpretations of pathogenicity rs61747281 4:25153606-25153606 4:25151984-25151984
7 RARS2 NM_020320.5(RARS2): c.-8A> C single nucleotide variant Conflicting interpretations of pathogenicity rs28381459 6:88299683-88299683 6:87589965-87589965
8 RARS2 NM_020320.5(RARS2): c.888G> C (p.Thr296=) single nucleotide variant Conflicting interpretations of pathogenicity rs145189950 6:88234361-88234361 6:87524643-87524643
9 RARS2 NM_020320.5(RARS2): c.975-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199941996 6:88231256-88231256 6:87521538-87521538
10 TSEN2 NM_001145394.1(TSEN2): c.272-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs41293385 3:12538013-12538013 3:12496514-12496514
11 TSEN2 NM_001145394.1(TSEN2): c.516+44G> C single nucleotide variant Conflicting interpretations of pathogenicity rs146117200 3:12545012-12545012 3:12503513-12503513
12 TSEN2 NM_001145394.1(TSEN2): c.1155A> G (p.Lys385=) single nucleotide variant Conflicting interpretations of pathogenicity rs113981920 3:12573152-12573152 3:12531653-12531653
13 TSEN54 NM_207346.3(TSEN54): c.624-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138719855 17:73517777-73517777 17:75521696-75521696
14 TSEN34 NM_024075.5(TSEN34): c.39G> A (p.Val13=) single nucleotide variant Conflicting interpretations of pathogenicity rs184898622 19:54695254-54695254 19:54191403-54191403
15 TSEN54 NM_207346.3(TSEN54): c.1368C> T (p.Asp456=) single nucleotide variant Conflicting interpretations of pathogenicity rs138560086 17:73519798-73519798 17:75523717-75523717
16 TSEN54 NM_207346.3(TSEN54): c.325C> G (p.Arg109Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148146916 17:73513281-73513281 17:75517200-75517200
17 TSEN54 NM_207346.3(TSEN54): c.984T> C (p.Ala328=) single nucleotide variant Conflicting interpretations of pathogenicity rs776960594 17:73518146-73518146 17:75522065-75522065
18 RARS2 NM_020320.5(RARS2): c.1366C> T (p.Arg456Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147844153 6:88228397-88228397 6:87518679-87518679
19 TSEN2 NM_001145394.1(TSEN2): c.-18+361G> A single nucleotide variant Conflicting interpretations of pathogenicity rs9871742 3:12526377-12526377 3:12484878-12484878
20 TSEN2 NM_001145394.1(TSEN2): c.784-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs748777382 3:12560544-12560544 3:12519045-12519045
21 TSEN2 NM_001145394.1(TSEN2): c.852C> T (p.Tyr284=) single nucleotide variant Conflicting interpretations of pathogenicity rs371073764 3:12560626-12560626 3:12519127-12519127
22 RARS2 NM_020320.5(RARS2): c.1637C> T (p.Pro546Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142348911 6:88224688-88224688 6:87514970-87514970
23 RARS2 ; SLC35A1 NM_006416.5(SLC35A1): c.*240G> T single nucleotide variant Conflicting interpretations of pathogenicity rs9450722 6:88221484-88221484 6:87511766-87511766
24 RARS2 NM_020320.5(RARS2): c.-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200228607 6:88299688-88299688 6:87589970-87589970
25 EXOSC3 NM_016042.4(EXOSC3): c.166A> C (p.Asn56His) single nucleotide variant Conflicting interpretations of pathogenicity rs148348866 9:37784876-37784876 9:37784879-37784879
26 RARS2 NM_020320.5(RARS2): c.442A> G (p.Thr148Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143389605 6:88258318-88258318 6:87548600-87548600
27 RARS2 NM_020320.5(RARS2): c.207A> G (p.Ala69=) single nucleotide variant Conflicting interpretations of pathogenicity rs568483789 6:88273854-88273854 6:87564136-87564136
28 EXOSC3 NM_016042.4(EXOSC3): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373191549 9:37785052-37785052 9:37785055-37785055
29 TSEN54 NM_207346.3(TSEN54): c.767G> A (p.Gly256Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200683263 17:73517929-73517929 17:75521848-75521848
30 VRK1 NM_003384.3(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 14:97319160-97319160 14:96852823-96852823
31 TSEN34 NM_024075.5(TSEN34): c.-5+15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141003293 19:54694316-54694316 19:54190465-54190465
32 TSEN34 NM_024075.5(TSEN34): c.230G> C (p.Arg77Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200004897 19:54695445-54695445 19:54191594-54191594
33 TSEN54 NM_207346.3(TSEN54): c.1415G> A (p.Arg472Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs151332020 17:73519845-73519845 17:75523764-75523764
34 TSEN54 NM_207346.3(TSEN54): c.285+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373044979 17:73513165-73513165 17:75517084-75517084
35 TSEN54 NM_207346.3(TSEN54): c.663G> A (p.Leu221=) single nucleotide variant Uncertain significance rs886053396 17:73517825-73517825 17:75521744-75521744
36 TSEN54 NM_207346.3(TSEN54): c.862G> A (p.Val288Ile) single nucleotide variant Uncertain significance rs199682817 17:73518024-73518024 17:75521943-75521943
37 TSEN2 NM_001145394.1(TSEN2): c.871C> T (p.Arg291Ter) single nucleotide variant Uncertain significance 3:12560645-12560645 3:12519146-12519146
38 TSEN34 NM_024075.5(TSEN34): c.289C> T (p.Gln97Ter) single nucleotide variant Uncertain significance 19:54695617-54695617 19:54191766-54191766
39 TSEN54 NM_207346.3(TSEN54): c.1452C> T (p.Asp484=) single nucleotide variant Uncertain significance rs767631739 17:73520364-73520364 17:75524283-75524283
40 TSEN54 NM_207346.3(TSEN54): c.1530C> A (p.Ile510=) single nucleotide variant Uncertain significance rs754461779 17:73520442-73520442 17:75524361-75524361
41 TSEN54 NM_207346.3(TSEN54): c.*167T> C single nucleotide variant Uncertain significance rs886053401 17:73520660-73520660 17:75524579-75524579
42 TSEN34 NM_024075.5(TSEN34): c.591C> G (p.Ala197=) single nucleotide variant Uncertain significance rs781446570 19:54696070-54696070 19:54192219-54192219
43 TSEN34 NM_024075.5(TSEN34): c.*94C> T single nucleotide variant Uncertain significance rs886054626 19:54697311-54697311 19:54193456-54193456
44 TSEN34 NM_024075.5(TSEN34): c.*849_*850AT[3] short repeat Uncertain significance rs746578183 19:54698072-54698073 19:54194217-54194218
45 TSEN34 NM_024075.5(TSEN34): c.*993C> T single nucleotide variant Uncertain significance rs535031564 19:54698213-54698213 19:54194355-54194355
46 TSEN34 NM_024075.5(TSEN34): c.*1053G> A single nucleotide variant Uncertain significance rs182704571 19:54698273-54698273 19:54194415-54194415
47 TSEN34 NM_024075.5(TSEN34): c.-95A> G single nucleotide variant Uncertain significance rs115290127 19:54694211-54694211 19:54190360-54190360
48 TSEN34 NM_024075.5(TSEN34): c.262C> T (p.Arg88Cys) single nucleotide variant Uncertain significance rs758855323 19:54695590-54695590 19:54191739-54191739
49 TSEN34 NM_024075.5(TSEN34): c.765C> T (p.His255=) single nucleotide variant Uncertain significance rs148706818 19:54697049-54697049 19:54193194-54193194
50 TSEN34 NM_024075.5(TSEN34): c.*358T> C single nucleotide variant Uncertain significance rs762136353 19:54697575-54697575 19:54193720-54193720

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 TSEN54 TSEN34 TSEN2

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 TSEN54 TSEN34 TSEN2
2 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.33 TSEN54 TSEN34 TSEN2
3 RNA phosphodiester bond hydrolysis GO:0090501 9.32 TSEN34 TSEN2
4 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.13 TSEN54 TSEN34 TSEN2
5 tRNA-type intron splice site recognition and cleavage GO:0000379 8.8 TSEN54 TSEN34 TSEN2

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 TRMT10B SEPSECS
2 tRNA-intron endonuclease activity GO:0000213 8.8 TSEN54 TSEN34 TSEN2

Sources for Pontoneocerebellar Hypoplasia

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....