PCH
MCID: NNS061
MIFTS: 20

Non-Syndromic Pontocerebellar Hypoplasia (PCH)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards integrated aliases for Non-Syndromic Pontocerebellar Hypoplasia:

Name: Non-Syndromic Pontocerebellar Hypoplasia 58 6
Pontoneocerebllar Hypoplasia 58
Pontoneocerebellar Atrophy 58
Pch 58

Characteristics:

Orphanet epidemiological data:

58
non-syndromic pontocerebellar hypoplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA98523

Summaries for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards based summary : Non-Syndromic Pontocerebellar Hypoplasia, also known as pontoneocerebllar hypoplasia, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 4. An important gene associated with Non-Syndromic Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include brain.

Related Diseases for Non-Syndromic Pontocerebellar Hypoplasia

Diseases related to Non-Syndromic Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia 31.3 TSEN54 TBC1D23 EXOSC3
2 pontocerebellar hypoplasia, type 4 31.1 TSEN54 TBC1D23
3 cerebellar hypoplasia 29.5 TSEN54 EXOSC3
4 pontocerebellar hypoplasia type 1 29.5 TSEN54 EXOSC3
5 microcephaly 29.0 TSEN54 TBC1D23 EXOSC3
6 paroxysmal cold hemoglobinuria 11.5
7 pontocerebellar hypoplasia, type 3 11.4
8 pontocerebellar hypoplasia, type 2a 11.1
9 pontocerebellar hypoplasia, type 6 11.1
10 pontocerebellar hypoplasia, type 2b 11.1
11 pontocerebellar hypoplasia, type 2c 11.1
12 pontocerebellar hypoplasia, type 5 11.0
13 pontocerebellar hypoplasia, type 1a 11.0
14 blood group, globoside system 11.0
15 pontocerebellar hypoplasia, type 1b 10.9
16 pontocerebellar hypoplasia, type 8 10.8
17 pontocerebellar hypoplasia, type 7 10.8
18 pontocerebellar hypoplasia, type 10 10.8
19 pontocerebellar hypoplasia, type 9 10.8
20 pontocerebellar hypoplasia, type 1c 10.8
21 pontocerebellar hypoplasia, type 11 10.8
22 pontocerebellar hypoplasia, type 1d 10.8
23 pontocerebellar hypoplasia, type 13 10.8
24 hemoglobinuria 10.1
25 palmoplantar keratoderma, punctate type ii 9.8
26 pulmonary venoocclusive disease 2, autosomal recessive 9.8
27 pulmonary venoocclusive disease 1, autosomal dominant 9.8
28 wiskott-aldrich syndrome 9.8
29 pulmonary hypertension, primary, 3 9.8
30 alacrima, achalasia, and mental retardation syndrome 9.8
31 pontocerebellar hypoplasia, type 2e 9.8
32 chorea, childhood-onset, with psychomotor retardation 9.8
33 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
34 spinal muscular atrophy 9.8
35 choreatic disease 9.8
36 olivopontocerebellar atrophy 9.8
37 myopathy 9.8
38 dystonia 9.8
39 muscular atrophy 9.8
40 exosc3 pontocerebellar hypoplasia 9.8
41 tsen54 pontocerebellar hypoplasia 9.8
42 cold agglutinin disease 9.8
43 congenital contractures 9.8
44 punctate porokeratosis 9.8
45 spasticity 9.8
46 cerebellar malformation 9.8
47 microlissencephaly 9.8
48 rhombencephalosynapsis 9.8
49 anterior horn cell disease 9.8 TSEN54 EXOSC3
50 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.7 TSEN54 EXOSC3

Graphical network of the top 20 diseases related to Non-Syndromic Pontocerebellar Hypoplasia:



Diseases related to Non-Syndromic Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Non-Syndromic Pontocerebellar Hypoplasia

Drugs & Therapeutics for Non-Syndromic Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Pontocerebellar Hypoplasia

Genetic Tests for Non-Syndromic Pontocerebellar Hypoplasia

Anatomical Context for Non-Syndromic Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Non-Syndromic Pontocerebellar Hypoplasia:

40
Brain

Publications for Non-Syndromic Pontocerebellar Hypoplasia

Variations for Non-Syndromic Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Non-Syndromic Pontocerebellar Hypoplasia:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D23 NM_001199198.3(TBC1D23):c.1473_1474TG[1] (p.Val492fs) Microsatellite Pathogenic 397553 3:100029306-100029307 3:100310462-100310463
2 TBC1D23 NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) Indel Pathogenic 397554 rs1553730885 3:100029359-100029359 3:100310515-100310515
3 TBC1D23 NM_001199198.3(TBC1D23):c.1687+2T>G SNV Pathogenic 397555 3:100035033-100035033 3:100316189-100316189
4 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
5 TSEN54 NM_207346.3(TSEN54):c.1335del (p.Leu446fs) Deletion Likely pathogenic 160129 rs587784476 17:73519765-73519765 17:75523684-75523684
6 EXOSC3 NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) SNV Likely pathogenic 129024 rs374550999 9:37784804-37784804 9:37784807-37784807
7 TSEN2 NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys) SNV Uncertain significance 212445 rs140979604 3:12546693-12546693 3:12505194-12505194
8 TSEN54 NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys) SNV Uncertain significance 96669 rs398124621 17:73518273-73518273 17:75522192-75522192
9 TSEN2 NM_025265.4(TSEN2):c.309G>A (p.Arg103=) SNV Uncertain significance 167750 rs148549222 3:12544761-12544761 3:12503262-12503262
10 TSEN2 NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile) SNV Uncertain significance 901486 3:12544943-12544943 3:12503444-12503444
11 TSEN2 NM_025265.4(TSEN2):c.522C>T (p.Asn174=) SNV Uncertain significance 514490 rs141580750 3:12544974-12544974 3:12503475-12503475
12 TSEN2 NM_025265.4(TSEN2):c.-353G>T SNV Uncertain significance 901983 3:12526044-12526044 3:12484545-12484545
13 TSEN2 NM_025265.4(TSEN2):c.-293A>G SNV Uncertain significance 901985 3:12526104-12526104 3:12484605-12484605
14 TSEN2 NM_025265.4(TSEN2):c.-224G>C SNV Uncertain significance 901986 3:12526173-12526173 3:12484674-12484674
15 TSEN2 NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) SNV Uncertain significance 902059 3:12545152-12545152 3:12503653-12503653
16 TSEN2 NM_025265.4(TSEN2):c.*430G>A SNV Uncertain significance 902115 3:12574650-12574650 3:12533151-12533151
17 TSEN2 NM_025265.4(TSEN2):c.-105A>G SNV Uncertain significance 902883 3:12526292-12526292 3:12484793-12484793
18 TSEN2 NM_025265.4(TSEN2):c.-91A>C SNV Uncertain significance 902884 3:12526306-12526306 3:12484807-12484807
19 TSEN34 NM_001077446.4(TSEN34):c.*458C>T SNV Uncertain significance 893829 19:54697675-54697675 19:54193820-54193820
20 TSEN34 NM_001077446.4(TSEN34):c.*758T>G SNV Uncertain significance 893830 19:54697975-54697975 19:54194120-54194120
21 TSEN34 NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) SNV Uncertain significance 212447 rs202245444 19:54695720-54695720 19:54191869-54191869
22 TSEN34 NM_001077446.4(TSEN34):c.675A>G (p.Arg225=) SNV Uncertain significance 515672 rs375366303 19:54696154-54696154 19:54192303-54192303
23 TSEN34 NM_001077446.4(TSEN34):c.*836C>T SNV Uncertain significance 894748 19:54698053-54698053 19:54194198-54194198
24 TSEN34 NM_001077446.4(TSEN34):c.*842T>G SNV Uncertain significance 894749 19:54698059-54698059 19:54194204-54194204
25 TSEN34 NM_001077446.4(TSEN34):c.*863G>A SNV Uncertain significance 894750 19:54698080-54698080 19:54194225-54194225
26 TSEN2 NM_025265.4(TSEN2):c.-13C>T SNV Uncertain significance 900330 3:12531287-12531287 3:12489788-12489788
27 TSEN2 NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) SNV Uncertain significance 160101 rs145142315 3:12560610-12560610 3:12519111-12519111
28 TSEN2 NM_025265.4(TSEN2):c.1233C>T (p.Ser411=) SNV Uncertain significance 900388 3:12571357-12571357 3:12529858-12529858
29 TSEN2 NM_025265.4(TSEN2):c.1249-12A>G SNV Uncertain significance 900389 3:12573057-12573057 3:12531558-12531558
30 TSEN2 NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu) SNV Uncertain significance 900390 3:12573075-12573075 3:12531576-12531576
31 TSEN2 NM_025265.4(TSEN2):c.*19C>T SNV Uncertain significance 900449 3:12574239-12574239 3:12532740-12532740
32 TSEN2 NM_025265.4(TSEN2):c.*95T>C SNV Uncertain significance 900450 3:12574315-12574315 3:12532816-12532816
33 TSEN2 NM_025265.4(TSEN2):c.*106A>G SNV Uncertain significance 900451 3:12574326-12574326 3:12532827-12532827
34 TSEN2 NM_025265.4(TSEN2):c.*198A>G SNV Uncertain significance 900452 3:12574418-12574418 3:12532919-12532919
35 TSEN54 NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser) SNV Uncertain significance 889593 17:73513323-73513323 17:75517242-75517242
36 TSEN54 NM_207346.3(TSEN54):c.369+5G>A SNV Uncertain significance 889594 17:73513330-73513330 17:75517249-75517249
37 TSEN54 NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg) SNV Uncertain significance 889595 17:73517504-73517504 17:75521423-75521423
38 TSEN54 NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg) SNV Uncertain significance 890244 17:73517907-73517907 17:75521826-75521826
39 TSEN54 NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu) SNV Uncertain significance 890245 17:73517983-73517983 17:75521902-75521902
40 TSEN54 NM_207346.3(TSEN54):c.867G>A (p.Thr289=) SNV Uncertain significance 890246 17:73518029-73518029 17:75521948-75521948
41 TSEN54 NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu) SNV Uncertain significance 890247 17:73518056-73518056 17:75521975-75521975
42 TSEN54 NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) SNV Uncertain significance 890282 17:73519811-73519811 17:75523730-75523730
43 TSEN54 NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys) SNV Uncertain significance 890283 17:73519848-73519848 17:75523767-75523767
44 TSEN54 NM_207346.3(TSEN54):c.1430+5G>A SNV Uncertain significance 430501 rs367823640 17:73519865-73519865 17:75523784-75523784
45 LOC112533671 NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln) SNV Uncertain significance 890764 17:73512657-73512657 17:75516576-75516576
46 TSEN54 NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys) SNV Uncertain significance 890809 17:73518192-73518192 17:75522111-75522111
47 TSEN54 NM_207346.3(TSEN54):c.1067A>G (p.His356Arg) SNV Uncertain significance 890810 17:73518229-73518229 17:75522148-75522148
48 TSEN54 NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) SNV Uncertain significance 805689 rs368377822 17:73518241-73518241 17:75522160-75522160
49 TSEN54 NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln) SNV Uncertain significance 287077 rs886043563 17:73512946-73512946 17:75516865-75516865
50 TSEN34 NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys) SNV Uncertain significance 330124 rs770199288 19:54695310-54695310 19:54191459-54191459

Expression for Non-Syndromic Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Non-Syndromic Pontocerebellar Hypoplasia.

Pathways for Non-Syndromic Pontocerebellar Hypoplasia

GO Terms for Non-Syndromic Pontocerebellar Hypoplasia

Sources for Non-Syndromic Pontocerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....