Pontoneocerebellar Hypoplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PNT016 MIFTS: 21	Pontoneocerebellar Hypoplasia Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Download Expand all tables

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Aliases & Classifications for Pontoneocerebellar Hypoplasia

MalaCards integrated aliases for Pontoneocerebellar Hypoplasia:

Name: Pontoneocerebellar Hypoplasia ⁵³ ²⁹ ⁶ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C1261175

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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.

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Related Diseases for Pontoneocerebellar Hypoplasia

Diseases related to Pontoneocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	pontocerebellar hypoplasia	29.7	EXOSC3 RARS2 TBC1D23 TSEN2 TSEN34 TSEN54
2	mental retardation, autosomal recessive 57	10.4	MBOAT7 TSEN34
3	pontocerebellar hypoplasia, type 2c	10.3	MBOAT7 TSEN34
4	pontocerebellar hypoplasia, type 4	10.2	CASKIN2 TSEN54
5	pontocerebellar hypoplasia, type 1b	10.2	EXOSC3 TRMT10B
6	pontocerebellar hypoplasia, type 2a	10.2	LLGL2 LOC107985023 TSEN54
7	pontocerebellar hypoplasia, type 5	10.1	TSEN54 VRK1
8	pontocerebellar hypoplasia, type 2e	10.1	SEPSECS TSEN2 TSEN34 TSEN54
9	pontocerebellar hypoplasia type 1	9.9	EXOSC3 RARS2 TSEN54 VRK1
10	microcephaly	9.5	EXOSC3 TSEN2 TSEN34 TSEN54 VRK1
11	trehalase deficiency	9.3	RARS2 SEPSECS TSEN54 VRK1
12	pontocerebellar hypoplasia, type 6	8.7	ORC3 RARS2 TSEN2 TSEN34 TSEN54 VRK1

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

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Symptoms & Phenotypes for Pontoneocerebellar Hypoplasia

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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

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Genetic Tests for Pontoneocerebellar Hypoplasia

Genetic tests related to Pontoneocerebellar Hypoplasia:

#	Genetic test	Affiliating Genes
1	Pontoneocerebellar Hypoplasia ²⁹

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Anatomical Context for Pontoneocerebellar Hypoplasia

MalaCards organs/tissues related to Pontoneocerebellar Hypoplasia:

⁴¹

Cerebellum, Brain

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Publications for Pontoneocerebellar Hypoplasia

Articles related to Pontoneocerebellar Hypoplasia:

#	Title	Authors	Year
1	Pontoneocerebellar hypoplasia: definition of MR features. ( 11511999 )	GoasdouAc P....Adamsbaum C.	2001
2	Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? ( 7985567 )	Mamourian A.C....Miller G.	1994
3	Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. ( 2407401 )	Pittella J.E....Nogueira A.M.	1990
4	Pontoneocerebellar hypoplasia--a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. ( 6478678 )	Gadisseux J.F....Lyon G.	1984

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Genes for Pontoneocerebellar Hypoplasia

Genes related to Pontoneocerebellar Hypoplasia (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TBC1D23	TBC1 Domain Family Member 23	Protein Coding	400	Pathogenic ⁶
2	TSEN2	TRNA Splicing Endonuclease Subunit 2	Protein Coding	19.22	GeneCards inferred via : Variants (show sections)
3	SEPSECS	Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase	Protein Coding	19.19	GeneCards inferred via : Variants (show sections)
4	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	19.12	GeneCards inferred via : Variants (show sections)
5	TSEN34	TRNA Splicing Endonuclease Subunit 34	Protein Coding	19.07	GeneCards inferred via : Variants (show sections)
6	RARS2	Arginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	18.85	GeneCards inferred via : Variants (show sections)
7	EXOSC3	Exosome Component 3	Protein Coding	18.62	GeneCards inferred via : Variants (show sections)
8	LLGL2	LLGL2, Scribble Cell Polarity Complex Component	Protein Coding	18.56	GeneCards inferred via : Variants (show sections)
9	VRK1	Vaccinia Related Kinase 1	Protein Coding	18.48	GeneCards inferred via : Variants (show sections)
10	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	18.44	GeneCards inferred via : Variants (show sections)
11	SLC35A1	Solute Carrier Family 35 Member A1	Protein Coding	18.21	GeneCards inferred via : Variants (show sections)
12	LOC107985023	Uncharacterized LOC107985023	RNA Gene	8.56	GeneCards inferred via : Variants (show sections)
13	TRMT10B	TRNA Methyltransferase 10B	Protein Coding	8.48	GeneCards inferred via : Variants (show sections)
14	CASKIN2	CASK Interacting Protein 2	Protein Coding	8.44	GeneCards inferred via : Variants (show sections)
15	SEPSECS-AS1	SEPSECS Antisense RNA 1 (Head To Head)	RNA Gene	7.93	GeneCards inferred via : Variants (show sections)
16	ORC3	Origin Recognition Complex Subunit 3	Protein Coding	7.79	GeneCards inferred via : Variants (show sections)

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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

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Expression for Pontoneocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontoneocerebellar Hypoplasia.

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Pathways for Pontoneocerebellar Hypoplasia

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

#	Super pathways	Score	Top Affiliating Genes
1	tRNA processing ⁶⁶ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁶ tRNA modification in the mitochondrion ⁶⁶ tRNA modification in the nucleus and cytosol ⁶⁶ tRNA processing in the mitochondrion ⁶⁶ tRNA processing in the nucleus ⁶⁶ wybutosine biosynthesis ¹	11.17	TSEN2 TSEN34 TSEN54

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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

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