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 Expand all tables

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Aliases & Classifications for Pontoneocerebellar Hypoplasia

MalaCards integrated aliases for Pontoneocerebellar Hypoplasia:

Name: Pontoneocerebellar Hypoplasia ⁵⁴ ³⁰ ⁶ ⁷⁴

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ 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 are tRNA processing and Transcription of tRNA. 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 11)

#	Related Disease	Score	Top Affiliating Genes
1	pontocerebellar hypoplasia	30.5	EXOSC3 RARS2 SEPSECS TBC1D23 TSEN2 TSEN34
2	mental retardation, autosomal recessive 57	10.1	MBOAT7 TSEN34
3	pontocerebellar hypoplasia, type 2c	10.1	MBOAT7 TSEN34
4	pontocerebellar hypoplasia, type 4	10.0	CASKIN2 TSEN54
5	pontocerebellar hypoplasia, type 2e	10.0	SEPSECS TSEN2 TSEN34 TSEN54
6	pontocerebellar hypoplasia, type 1b	10.0	EXOSC3 TRMT10B
7	pontocerebellar hypoplasia, type 5	9.9	TSEN54 VRK1
8	pontocerebellar hypoplasia type 1	9.9	EXOSC3 RARS2 TSEN54 VRK1
9	pontocerebellar hypoplasia, type 2a	9.8	CASKIN2 LLGL2 LOC107985023 TSEN54
10	pontocerebellar hypoplasia, type 6	9.5	ORC3 RARS2 TSEN2 TSEN34 TSEN54 VRK1
11	microcephaly	9.3	EXOSC3 TBC1D23 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	Completed	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 ³⁰

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Anatomical Context for Pontoneocerebellar Hypoplasia

MalaCards organs/tissues related to Pontoneocerebellar Hypoplasia:

⁴²

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 )	Goasdou? P...Adamsbaum C	2001
2	Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? ( 7985567 )	Mamourian AC...Miller G	1994
3	Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. ( 2407401 )	Pittella JE...Nogueira AM	1990
4	Pontoneocerebellar hypoplasia--a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. ( 6478678 )	Gadisseux JF...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	417.67	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	TSEN2	TRNA Splicing Endonuclease Subunit 2	Protein Coding	19.11	GeneCards inferred via : Variants (show sections)
3	SEPSECS	Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase	Protein Coding	19.08	GeneCards inferred via : Variants (show sections)
4	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	19	GeneCards inferred via : Variants (show sections)
5	TSEN34	TRNA Splicing Endonuclease Subunit 34	Protein Coding	18.98	GeneCards inferred via : Variants (show sections)
6	RARS2	Arginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	18.73	GeneCards inferred via : Variants (show sections)
7	EXOSC3	Exosome Component 3	Protein Coding	18.51	GeneCards inferred via : Variants (show sections)
8	LLGL2	LLGL Scribble Cell Polarity Complex Component 2	Protein Coding	18.44	GeneCards inferred via : Variants (show sections)
9	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	18.37	GeneCards inferred via : Variants (show sections)
10	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	18.32	GeneCards inferred via : Variants (show sections)
11	SLC35A1	Solute Carrier Family 35 Member A1	Protein Coding	18.1	GeneCards inferred via : Variants (show sections)
12	LOC107985023	Uncharacterized LOC107985023	RNA Gene	8.44	GeneCards inferred via : Variants (show sections)
13	TRMT10B	TRNA Methyltransferase 10B	Protein Coding	8.37	GeneCards inferred via : Variants (show sections)
14	CASKIN2	CASK Interacting Protein 2	Protein Coding	8.32	GeneCards inferred via : Variants (show sections)
15	SEPSECS-AS1	SEPSECS Antisense RNA 1 (Head To Head)	RNA Gene	7.82	GeneCards inferred via : Variants (show sections)
16	ORC3	Origin Recognition Complex Subunit 3	Protein Coding	7.67	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 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_020320.3(RARS2): c.606C> T (p.Leu202=)	single nucleotide variant	Benign/Likely benign	rs75794097	GRCh37	Chromosome 6, 88251642: 88251642
26	RARS2	NM_020320.3(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_020320.3(RARS2): c.703G> A (p.Val235Met)	single nucleotide variant	Benign/Likely benign	rs35862137	GRCh37	Chromosome 6, 88240570: 88240570
30	RARS2	NM_020320.3(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	TSEN2	NM_025265.3(TSEN2): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs77899976	GRCh37	Chromosome 3, 12544779: 12544779
50	TSEN2	NM_025265.3(TSEN2): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs77899976	GRCh38	Chromosome 3, 12503280: 12503280

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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 ⁶⁷ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁷ tRNA modification in the mitochondrion ⁶⁷ tRNA modification in the nucleus and cytosol ⁶⁷ tRNA processing in the mitochondrion ⁶⁷ tRNA processing in the nucleus ⁶⁷ wybutosine biosynthesis ¹	11.5	TSEN2 TSEN34 TSEN54
2	Transcription of tRNA ⁶⁵ Show member pathways Assembly of RNA Polymerase-III Initiation Complex ⁶⁵	10.19	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	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

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