PCH1B
MCID: PNT018
MIFTS: 44

Pontocerebellar Hypoplasia, Type 1b (PCH1B)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 1b

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1b:

Name: Pontocerebellar Hypoplasia, Type 1b 56 29 13 6 71
Pontocerebellar Hypoplasia Type 1b 12 15
Pch1b 56 73
Hypoplasia, Pontocerebellar, Type 1b 39
Pontocerebellar Hypoplasia 1b 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
early death may occur


HPO:

31
pontocerebellar hypoplasia, type 1b:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 1b

OMIM : 56 Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (614678)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1b, also known as pontocerebellar hypoplasia type 1b, is related to cerebellar hypoplasia and pontocerebellar hypoplasia, and has symptoms including muscle weakness and muscle spasticity. An important gene associated with Pontocerebellar Hypoplasia, Type 1b is EXOSC3 (Exosome Component 3), and among its related pathways/superpathways are Gene Expression and Metabolism of proteins. Affiliated tissues include tongue, spinal cord and skeletal muscle, and related phenotypes are retinal dystrophy and seizure

Disease Ontology : 12 A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has material basis in autosomal recessive inheritance of mutation in the EXOSC3 gene.

UniProtKB/Swiss-Prot : 73 Pontocerebellar hypoplasia 1B: A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.

Related Diseases for Pontocerebellar Hypoplasia, Type 1b

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia, Type 13 Exosc3-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 30.3 EXOSC8 EXOSC3
2 pontocerebellar hypoplasia 29.0 VRK1 TRMT10B EXOSC9 EXOSC8 EXOSC3
3 exosc3-related pontocerebellar hypoplasia 11.8
4 autosomal recessive disease 10.2
5 anterior horn cell disease 10.0 VRK1 EXOSC3
6 hyperoxaluria, primary, type ii 9.7 EXOSC9 EXOSC8
7 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.7 U2AF1 EXOSC9
8 hyperoxaluria, primary, type iii 9.6 EXOSC9 EXOSC8
9 monoclonal gammopathy of uncertain significance 9.5 U2AF1 DIS3
10 pontocerebellar hypoplasia type 1 9.3 VRK1 EXOSC9 EXOSC8 EXOSC3

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 1b:



Diseases related to Pontocerebellar Hypoplasia, Type 1b

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1b

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1b:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 occasional (7.5%) HP:0000556
2 seizure 31 occasional (7.5%) HP:0001250
3 global developmental delay 31 HP:0001263
4 flexion contracture 31 HP:0001371
5 spasticity 31 HP:0001257
6 feeding difficulties 31 HP:0011968
7 skeletal muscle atrophy 31 HP:0003202
8 nystagmus 31 HP:0000639
9 strabismus 31 HP:0000486
10 absent speech 31 HP:0001344
11 hyperreflexia 31 HP:0001347
12 growth delay 31 HP:0001510
13 respiratory insufficiency 31 HP:0002093
14 hip dislocation 31 HP:0002827
15 abnormality of the foot 31 HP:0001760
16 cerebellar atrophy 31 HP:0001272
17 poor head control 31 HP:0002421
18 cerebral atrophy 31 HP:0002059
19 oculomotor apraxia 31 HP:0000657
20 generalized hypotonia 31 HP:0001290
21 muscular hypotonia of the trunk 31 HP:0008936
22 tongue atrophy 31 HP:0012473
23 tongue fasciculations 31 HP:0001308
24 progressive microcephaly 31 HP:0000253
25 cerebellar cyst 31 HP:0002350

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy
emg shows neurogenic changes

Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
poor visual attention
retinal dystrophy (1 family)

Skeletal Pelvis:
hip dislocation

Head And Neck Mouth:
tongue atrophy
tongue fasciculations

Skeletal Feet:
foot deformities

Neurologic Peripheral Nervous System:
axonal motor neuropathy

Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebellar atrophy
cerebral atrophy
seizures (in some patients)
more
Respiratory:
respiratory insufficiency

Head And Neck Head:
poor head control
microcephaly, postnatal, progressive (-2 to -3.5 sd)

Skeletal:
joint contractures

Abdomen Gastrointestinal:
poor feeding

Growth Other:
poor growth, postnatal

Clinical features from OMIM:

614678

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 1b:


muscle weakness, muscle spasticity

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 1b according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.92 DIS3 EXOSC2 TRMT10B U2AF1

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1b

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 1b

Genetic Tests for Pontocerebellar Hypoplasia, Type 1b

Genetic tests related to Pontocerebellar Hypoplasia, Type 1b:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 1b 29 EXOSC3

Anatomical Context for Pontocerebellar Hypoplasia, Type 1b

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 1b:

40
Tongue, Spinal Cord, Skeletal Muscle, Pons, Cerebellum

Publications for Pontocerebellar Hypoplasia, Type 1b

Articles related to Pontocerebellar Hypoplasia, Type 1b:

(show all 19)
# Title Authors PMID Year
1
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. 6 56
25149867 2014
2
Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. 56 6
23883322 2013
3
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 6 56
23975261 2013
4
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. 6 56
22544365 2012
5
EXOSC3-Related Pontocerebellar Hypoplasia 6
25144110 2014
6
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. 56
24524299 2014
7
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 56
23564332 2013
8
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. 56
23284067 2013
9
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 56
12731647 2003
10
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 56
12548734 2003
11
Anterior horn cell disease and olivopontocerebellar hypoplasia. 56
11020648 2000
12
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
13
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020
14
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. 61
30986545 2020
15
The RNA Exosome and Human Disease. 61
31768969 2020
16
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 61
30141626 2018
17
The RNA exosome and RNA exosome-linked disease. 61
29093021 2018
18
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. 61
28687512 2017
19
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. 61
27777260 2017

Variations for Pontocerebellar Hypoplasia, Type 1b

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 1b:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXOSC3 NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)SNV Pathogenic 31689 rs387907195 9:37783970-37783970 9:37783973-37783973
2 EXOSC3 NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)deletion Pathogenic 31690 rs672601331 9:37784739-37784748 9:37784742-37784751
3 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953
4 EXOSC3 NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)SNV Pathogenic 31692 rs672601332 9:37780792-37780792 9:37780795-37780795
5 EXOSC3 NM_016042.4(EXOSC3):c.112del (p.Glu38fs)deletion Pathogenic 129023 rs587780333 9:37784930-37784930 9:37784933-37784933
6 EXOSC3 NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)SNV Pathogenic 183048 rs730882145 9:37782038-37782038 9:37782041-37782041
7 EXOSC3 NM_016042.4(EXOSC3):c.155del (p.Pro52fs)deletion Pathogenic 280004 rs886041316 9:37784887-37784887 9:37784890-37784890
8 EXOSC3 NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)SNV Pathogenic/Likely pathogenic 31688 rs141138948 9:37783990-37783990 9:37783993-37783993
9 EXOSC3 NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)SNV Likely pathogenic 129024 rs374550999 9:37784804-37784804 9:37784807-37784807
10 VRK1 NM_003384.3(VRK1):c.156_160+3deldeletion Likely pathogenic 624564 rs1566696845 14:97299962-97299969 14:96833625-96833632
11 EXOSC3 NM_016042.4(EXOSC3):c.475-12A>GSNV Conflicting interpretations of pathogenicity 488793 rs370087266 9:37782146-37782146 9:37782149-37782149
12 EXOSC3 NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)SNV Conflicting interpretations of pathogenicity 746975 9:37784989-37784989 9:37784992-37784992
13 EXOSC3 NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)SNV Conflicting interpretations of pathogenicity 746976 9:37784990-37784990 9:37784993-37784993
14 EXOSC3 NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)SNV Conflicting interpretations of pathogenicity 210965 rs797045567 9:37782037-37782037 9:37782040-37782040
15 EXOSC3 NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)SNV Conflicting interpretations of pathogenicity 210963 rs62640002 9:37784849-37784849 9:37784852-37784852
16 EXOSC3 NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)SNV Conflicting interpretations of pathogenicity 366878 rs148348866 9:37784876-37784876 9:37784879-37784879
17 EXOSC3 NM_016042.4(EXOSC3):c.-11T>CSNV Conflicting interpretations of pathogenicity 366879 rs373191549 9:37785052-37785052 9:37785055-37785055
18 EXOSC3 NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)SNV Conflicting interpretations of pathogenicity 383585 rs138085418 9:37783955-37783955 9:37783958-37783958
19 EXOSC3 NM_016042.4(EXOSC3):c.*954G>ASNV Uncertain significance 366867 rs530895640 9:37779722-37779722 9:37779725-37779725
20 EXOSC3 NM_016042.4(EXOSC3):c.*402C>TSNV Uncertain significance 366874 rs567641975 9:37780274-37780274 9:37780277-37780277
21 EXOSC3 NM_016042.4(EXOSC3):c.*354C>GSNV Uncertain significance 366875 rs530037792 9:37780322-37780322 9:37780325-37780325
22 EXOSC3 NM_016042.4(EXOSC3):c.*582A>CSNV Uncertain significance 366872 rs886063932 9:37780094-37780094 9:37780097-37780097
23 EXOSC3 NM_016042.4(EXOSC3):c.*194G>CSNV Uncertain significance 366876 rs886063933 9:37780482-37780482 9:37780485-37780485
24 EXOSC3 NM_016042.4(EXOSC3):c.*812T>GSNV Uncertain significance 366870 rs886063931 9:37779864-37779864 9:37779867-37779867
25 EXOSC3 NM_016042.4(EXOSC3):c.*847T>ASNV Uncertain significance 366869 rs566642894 9:37779829-37779829 9:37779832-37779832
26 EXOSC3 NM_016042.4(EXOSC3):c.*795A>GSNV Uncertain significance 366871 rs558579097 9:37779881-37779881 9:37779884-37779884
27 EXOSC3 NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)SNV Uncertain significance 210964 rs138169215 9:37784057-37784057 9:37784060-37784060
28 EXOSC3 NM_016042.4(EXOSC3):c.*242A>CSNV Uncertain significance 913707 9:37780434-37780434 9:37780437-37780437
29 EXOSC3 NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)SNV Uncertain significance 914102 9:37780795-37780795 9:37780798-37780798
30 EXOSC3 NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)SNV Uncertain significance 912644 9:37785000-37785000 9:37785003-37785003
31 EXOSC3 NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)SNV Uncertain significance 912645 9:37785005-37785005 9:37785008-37785008
32 EXOSC3 NM_016042.4(EXOSC3):c.325-6T>CSNV Uncertain significance 914612 9:37784066-37784066 9:37784069-37784069
33 EXOSC3 NM_016042.4(EXOSC3):c.324+15C>TSNV Uncertain significance 914613 9:37784703-37784703 9:37784706-37784706
34 EXOSC3 NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)SNV Uncertain significance 858223 9:37783982-37783982 9:37783985-37783985
35 EXOSC3 NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)SNV Uncertain significance 841376 9:37784024-37784024 9:37784027-37784027
36 EXOSC3 NM_016042.4(EXOSC3):c.*63T>GSNV Uncertain significance 914101 9:37780613-37780613 9:37780616-37780616
37 EXOSC3 NM_016042.4(EXOSC3):c.*611A>GSNV Uncertain significance 912609 9:37780065-37780065 9:37780068-37780068
38 EXOSC3 NM_016042.4(EXOSC3):c.*555A>CSNV Uncertain significance 912610 9:37780121-37780121 9:37780124-37780124
39 EXOSC3 NM_016042.4(EXOSC3):c.*419A>GSNV Uncertain significance 912611 9:37780257-37780257 9:37780260-37780260
40 EXOSC3 NM_016042.4(EXOSC3):c.*354C>ASNV Uncertain significance 913704 9:37780322-37780322 9:37780325-37780325
41 EXOSC3 NM_016042.4(EXOSC3):c.*312T>GSNV Uncertain significance 913705 9:37780364-37780364 9:37780367-37780367
42 EXOSC3 NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)SNV Uncertain significance 546514 rs549030188 9:37785029-37785029 9:37785032-37785032
43 EXOSC3 NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)SNV Uncertain significance 571172 rs565320740 9:37780722-37780722 9:37780725-37780725
44 EXOSC3 NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)SNV Uncertain significance 661315 9:37780719-37780719 9:37780722-37780722
45 EXOSC3 NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)indel Uncertain significance 650346 9:37784989-37784990 9:37784992-37784993
46 EXOSC3 NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)SNV Likely benign 706943 9:37784891-37784891 9:37784894-37784894
47 EXOSC3 NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)SNV Likely benign 510036 rs149583035 9:37784823-37784823 9:37784826-37784826
48 EXOSC3 NM_016042.4(EXOSC3):c.*64C>TSNV Likely benign 913709 9:37780612-37780612 9:37780615-37780615
49 EXOSC3 NM_016042.4(EXOSC3):c.*881A>GSNV Likely benign 366868 rs143319153 9:37779795-37779795 9:37779798-37779798
50 EXOSC3 NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)SNV Likely benign 384313 rs62640004 9:37780747-37780747 9:37780750-37780750

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 1b:

73
# Symbol AA change Variation ID SNP ID
1 EXOSC3 p.Gly31Ala VAR_068505 rs387907196
2 EXOSC3 p.Asp132Ala VAR_068506 rs141138948
3 EXOSC3 p.Ala139Pro VAR_068507 rs387907195
4 EXOSC3 p.Trp238Arg VAR_068508 rs672601332

Expression for Pontocerebellar Hypoplasia, Type 1b

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 1b.

Pathways for Pontocerebellar Hypoplasia, Type 1b

GO Terms for Pontocerebellar Hypoplasia, Type 1b

Cellular components related to Pontocerebellar Hypoplasia, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.02 VRK1 U2AF1 TRMT10B EXOSC9 EXOSC8 EXOSC5
2 cytosol GO:0005829 10.01 VRK1 TRMT10B EXOSC9 EXOSC8 EXOSC5 EXOSC3
3 nucleoplasm GO:0005654 9.91 VRK1 U2AF1 TRMT10B EXOSC9 EXOSC8 EXOSC5
4 nucleolus GO:0005730 9.87 VRK1 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2
5 exosome (RNase complex) GO:0000178 9.63 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3
6 transcriptionally active chromatin GO:0035327 9.43 EXOSC5 EXOSC3
7 cytoplasmic exosome (RNase complex) GO:0000177 9.43 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3
8 nuclear exosome (RNase complex) GO:0000176 9.1 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3

Biological processes related to Pontocerebellar Hypoplasia, Type 1b according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.91 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3
2 regulation of mRNA stability GO:0043488 9.85 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3
3 rRNA catabolic process GO:0016075 9.76 EXOSC9 EXOSC8 EXOSC5 DIS3
4 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.71 EXOSC9 EXOSC8 EXOSC3 EXOSC2
5 nuclear mRNA surveillance GO:0071028 9.69 EXOSC9 EXOSC8 EXOSC5
6 polyadenylation-dependent snoRNA 3'-end processing GO:0071051 9.67 EXOSC5 EXOSC3 EXOSC2
7 CUT catabolic process GO:0071034 9.65 EXOSC3 EXOSC2 DIS3
8 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.62 EXOSC9 EXOSC8 EXOSC3 EXOSC2
9 positive regulation of cell growth GO:0030307 9.59 EXOSC9 EXOSC2
10 RNA phosphodiester bond hydrolysis, exonucleolytic GO:0090503 9.58 EXOSC5 DIS3
11 RNA catabolic process GO:0006401 9.58 EXOSC8 EXOSC5
12 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.57 EXOSC9 EXOSC8
13 DNA deamination GO:0045006 9.56 EXOSC5 EXOSC3
14 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.56 EXOSC9 EXOSC8 EXOSC3 EXOSC2
15 U5 snRNA 3'-end processing GO:0034476 9.55 EXOSC9 EXOSC8
16 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.55 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2
17 U1 snRNA 3'-end processing GO:0034473 9.54 EXOSC9 EXOSC8
18 nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription GO:0071049 9.52 EXOSC3 EXOSC2
19 U4 snRNA 3'-end processing GO:0034475 9.35 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2
20 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.1 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2 DIS3

Molecular functions related to Pontocerebellar Hypoplasia, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.7 U2AF1 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2
2 3'-5'-exoribonuclease activity GO:0000175 9.35 EXOSC9 EXOSC5 EXOSC3 EXOSC2 DIS3
3 mRNA 3'-UTR AU-rich region binding GO:0035925 9.32 EXOSC9 EXOSC8
4 AU-rich element binding GO:0017091 9.26 EXOSC9 EXOSC8
5 exoribonuclease activity GO:0004532 9.02 EXOSC9 EXOSC8 EXOSC5 EXOSC3 EXOSC2

Sources for Pontocerebellar Hypoplasia, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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