PCH1B
MCID: PNT018
MIFTS: 46

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 57 29 13 6 71
Pontocerebellar Hypoplasia Type 1b 12 15
Pch1b 57 73
Hypoplasia, Pontocerebellar, Type 1b 39
Pontocerebellar Hypoplasia 1b 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1b, also known as pontocerebellar hypoplasia type 1b, is related to pontocerebellar hypoplasia and exosc3 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 Pontocerebellar Hypoplasia Type 1

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia 28.5 VRK1 TRMT10B EXOSC9 EXOSC8 EXOSC3 EXOSC2
2 exosc3 pontocerebellar hypoplasia 11.4
3 autosomal recessive disease 10.1
4 cerebellar hypoplasia 10.1
5 anterior horn cell disease 10.1 VRK1 EXOSC3
6 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.0 VRK1 EXOSC3
7 aortic valve prolapse 9.9 EXOSC9 EXOSC8
8 gm1-gangliosidosis, type i 9.9 EXOSC9 EXOSC8
9 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.7 U2AF1 EXOSC9
10 spherocytosis, type 2 9.7 EXOSC9 EXOSC1
11 pontocerebellar hypoplasia type 1 9.6 VRK1 EXOSC9 EXOSC8 EXOSC3
12 monoclonal gammopathy of uncertain significance 9.6 U2AF1 DIS3
13 hyperoxaluria, primary, type ii 9.5 EXOSC9 EXOSC8 EXOSC1
14 hyperoxaluria, primary, type iii 9.5 EXOSC9 EXOSC8 EXOSC1
15 x-linked nephrolithiasis type i 9.2 EXOSC9 EXOSC8 EXOSC1 DIS3

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 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 nystagmus 31 HP:0000639
6 respiratory insufficiency 31 HP:0002093
7 global developmental delay 31 HP:0001263
8 flexion contracture 31 HP:0001371
9 skeletal muscle atrophy 31 HP:0003202
10 strabismus 31 HP:0000486
11 absent speech 31 HP:0001344
12 growth delay 31 HP:0001510
13 hip dislocation 31 HP:0002827
14 poor head control 31 HP:0002421
15 feeding difficulties 31 HP:0011968
16 cerebellar atrophy 31 HP:0001272
17 cerebral atrophy 31 HP:0002059
18 oculomotor apraxia 31 HP:0000657
19 generalized hypotonia 31 HP:0001290
20 muscular hypotonia of the trunk 31 HP:0008936
21 tongue fasciculations 31 HP:0001308
22 tongue atrophy 31 HP:0012473
23 progressive microcephaly 31 HP:0000253
24 cerebellar cyst 31 HP:0002350
25 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebellar atrophy
cerebral atrophy
seizures (in some patients)
more
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy
emg shows neurogenic changes

Skeletal Pelvis:
hip dislocation

Head And Neck Mouth:
tongue fasciculations
tongue atrophy

Skeletal Feet:
foot deformities

Neurologic Peripheral Nervous System:
axonal motor neuropathy

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

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 (Updated 05-Mar-2021)

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 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.07 EXOSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.07 EXOSC2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.07 EXOSC9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.07 EXOSC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.07 EXOSC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.07 EXOSC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.07 EXOSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.07 EXOSC2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.07 EXOSC9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.07 EXOSC2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.07 EXOSC9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.07 EXOSC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.07 EXOSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.07 EXOSC2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.07 EXOSC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.07 EXOSC1 EXOSC2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.07 EXOSC2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.07 EXOSC9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.07 EXOSC9
20 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, Brain, Cerebellum

Publications for Pontocerebellar Hypoplasia, Type 1b

Articles related to Pontocerebellar Hypoplasia, Type 1b:

(show all 22)
# Title Authors PMID Year
1
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. 57 6
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. 6 57
23883322 2013
3
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 57 6
23975261 2013
4
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. 57 6
22544365 2012
5
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. 57
24524299 2014
6
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 57
23564332 2013
7
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. 57
23284067 2013
8
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 57
12731647 2003
9
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 57
12548734 2003
10
Anterior horn cell disease and olivopontocerebellar hypoplasia. 57
11020648 2000
11
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
12
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. 61
33462000 2021
13
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia. 61
33111306 2020
14
A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. 61
32645003 2020
15
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020
16
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
17
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. 61
30986545 2020
18
The RNA Exosome and Human Disease. 61
31768969 2020
19
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 61
30141626 2018
20
The RNA exosome and RNA exosome-linked disease. 61
29093021 2018
21
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. 61
28687512 2017
22
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 60)
# 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.712T>C (p.Trp238Arg) SNV Pathogenic 31692 rs672601332 9:37780792-37780792 9:37780795-37780795
4 EXOSC3 NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) SNV Pathogenic 183048 rs730882145 9:37782038-37782038 9:37782041-37782041
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.155del (p.Pro52fs) Deletion Pathogenic 280004 rs886041316 9:37784887-37784887 9:37784890-37784890
7 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953
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+3del Deletion Likely pathogenic 624564 rs1566696845 14:97299962-97299969 14:96833625-96833632
11 EXOSC3 NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) SNV Likely pathogenic 210965 rs797045567 9:37782037-37782037 9:37782040-37782040
12 EXOSC3 NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) SNV Conflicting interpretations of pathogenicity 366878 rs148348866 9:37784876-37784876 9:37784879-37784879
13 EXOSC3 NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) SNV Conflicting interpretations of pathogenicity 746975 rs145677716 9:37784989-37784989 9:37784992-37784992
14 EXOSC3 NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) SNV Conflicting interpretations of pathogenicity 746976 rs147135294 9:37784990-37784990 9:37784993-37784993
15 EXOSC3 NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) SNV Uncertain significance 935731 9:37785005-37785005 9:37785008-37785008
16 EXOSC3 NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs) Deletion Uncertain significance 970610 9:37780670-37780682 9:37780673-37780685
17 EXOSC3 NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met) SNV Uncertain significance 571172 rs565320740 9:37780722-37780722 9:37780725-37780725
18 EXOSC3 NM_016042.4(EXOSC3):c.475-12A>G SNV Uncertain significance 488793 rs370087266 9:37782146-37782146 9:37782149-37782149
19 EXOSC3 NM_016042.4(EXOSC3):c.*63T>G SNV Uncertain significance 914101 9:37780613-37780613 9:37780616-37780616
20 EXOSC3 NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) SNV Uncertain significance 914102 9:37780795-37780795 9:37780798-37780798
21 EXOSC3 NM_016042.4(EXOSC3):c.325-6T>C SNV Uncertain significance 914612 9:37784066-37784066 9:37784069-37784069
22 EXOSC3 NM_016042.4(EXOSC3):c.324+15C>T SNV Uncertain significance 914613 9:37784703-37784703 9:37784706-37784706
23 EXOSC3 NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu) SNV Uncertain significance 661315 rs767942736 9:37780719-37780719 9:37780722-37780722
24 EXOSC3 NM_016042.4(EXOSC3):c.*242A>C SNV Uncertain significance 913707 9:37780434-37780434 9:37780437-37780437
25 EXOSC3 NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser) Indel Uncertain significance 650346 rs1589061488 9:37784989-37784990 9:37784992-37784993
26 EXOSC3 NM_016042.4(EXOSC3):c.-11T>C SNV Uncertain significance 366879 rs373191549 9:37785052-37785052 9:37785055-37785055
27 EXOSC3 NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg) SNV Uncertain significance 858223 9:37783982-37783982 9:37783985-37783985
28 EXOSC3 NM_016042.4(EXOSC3):c.*812T>G SNV Uncertain significance 366870 rs886063931 9:37779864-37779864 9:37779867-37779867
29 EXOSC3 NM_016042.4(EXOSC3):c.*954G>A SNV Uncertain significance 366867 rs530895640 9:37779722-37779722 9:37779725-37779725
30 EXOSC3 NM_016042.4(EXOSC3):c.*194G>C SNV Uncertain significance 366876 rs886063933 9:37780482-37780482 9:37780485-37780485
31 EXOSC3 NM_016042.4(EXOSC3):c.*402C>T SNV Uncertain significance 366874 rs567641975 9:37780274-37780274 9:37780277-37780277
32 EXOSC3 NM_016042.4(EXOSC3):c.*795A>G SNV Uncertain significance 366871 rs558579097 9:37779881-37779881 9:37779884-37779884
33 EXOSC3 NM_016042.4(EXOSC3):c.*847T>A SNV Uncertain significance 366869 rs566642894 9:37779829-37779829 9:37779832-37779832
34 EXOSC3 NM_016042.4(EXOSC3):c.*354C>G SNV Uncertain significance 366875 rs530037792 9:37780322-37780322 9:37780325-37780325
35 EXOSC3 NM_016042.4(EXOSC3):c.*582A>C SNV Uncertain significance 366872 rs886063932 9:37780094-37780094 9:37780097-37780097
36 EXOSC3 NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) SNV Uncertain significance 841376 9:37784024-37784024 9:37784027-37784027
37 EXOSC3 NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) SNV Uncertain significance 546514 rs549030188 9:37785029-37785029 9:37785032-37785032
38 EXOSC3 NM_016042.4(EXOSC3):c.*611A>G SNV Uncertain significance 912609 9:37780065-37780065 9:37780068-37780068
39 EXOSC3 NM_016042.4(EXOSC3):c.*555A>C SNV Uncertain significance 912610 9:37780121-37780121 9:37780124-37780124
40 EXOSC3 NM_016042.4(EXOSC3):c.*419A>G SNV Uncertain significance 912611 9:37780257-37780257 9:37780260-37780260
41 EXOSC3 NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) SNV Uncertain significance 912644 9:37785000-37785000 9:37785003-37785003
42 EXOSC3 NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) SNV Uncertain significance 912645 9:37785005-37785005 9:37785008-37785008
43 EXOSC3 NM_016042.4(EXOSC3):c.*354C>A SNV Uncertain significance 913704 9:37780322-37780322 9:37780325-37780325
44 EXOSC3 NM_016042.4(EXOSC3):c.*312T>G SNV Uncertain significance 913705 9:37780364-37780364 9:37780367-37780367
45 EXOSC3 NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) SNV Uncertain significance 383585 rs138085418 9:37783955-37783955 9:37783958-37783958
46 EXOSC3 NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) SNV Uncertain significance 210964 rs138169215 9:37784057-37784057 9:37784060-37784060
47 EXOSC3 NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) SNV Likely benign 210963 rs62640002 9:37784849-37784849 9:37784852-37784852
48 EXOSC3 NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val) SNV Likely benign 384313 rs62640004 9:37780747-37780747 9:37780750-37780750
49 EXOSC3 NM_016042.4(EXOSC3):c.219C>A (p.Arg73=) SNV Likely benign 510036 rs149583035 9:37784823-37784823 9:37784826-37784826
50 EXOSC3 NM_016042.4(EXOSC3):c.*64C>T SNV Likely benign 913709 9:37780612-37780612 9:37780615-37780615

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 EXOSC3
2 cytosol GO:0005829 10.01 VRK1 TRMT10B EXOSC9 EXOSC8 EXOSC3 EXOSC2
3 nucleoplasm GO:0005654 9.91 VRK1 U2AF1 TRMT10B EXOSC9 EXOSC8 EXOSC3
4 nucleolus GO:0005730 9.87 VRK1 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1
5 cytoplasmic exosome (RNase complex) GO:0000177 9.55 EXOSC9 EXOSC8 EXOSC3 EXOSC2 DIS3
6 exosome (RNase complex) GO:0000178 9.43 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1 DIS3
7 nuclear exosome (RNase complex) GO:0000176 9.1 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1 DIS3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.91 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1 DIS3
2 regulation of mRNA stability GO:0043488 9.73 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1 DIS3
3 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.71 EXOSC9 EXOSC8 EXOSC3 EXOSC2
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 9.67 EXOSC9 EXOSC8 EXOSC3 EXOSC2
5 rRNA catabolic process GO:0016075 9.65 EXOSC9 EXOSC8 DIS3
6 CUT catabolic process GO:0071034 9.63 EXOSC3 EXOSC2 DIS3
7 U4 snRNA 3'-end processing GO:0034475 9.62 EXOSC9 EXOSC8 EXOSC3 EXOSC2
8 positive regulation of cell growth GO:0030307 9.58 EXOSC9 EXOSC2
9 RNA phosphodiester bond hydrolysis, exonucleolytic GO:0090503 9.57 EXOSC1 DIS3
10 nuclear mRNA surveillance GO:0071028 9.56 EXOSC9 EXOSC8
11 polyadenylation-dependent snoRNA 3'-end processing GO:0071051 9.55 EXOSC3 EXOSC2
12 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.54 EXOSC9 EXOSC8
13 U5 snRNA 3'-end processing GO:0034476 9.52 EXOSC9 EXOSC8
14 U1 snRNA 3'-end processing GO:0034473 9.51 EXOSC9 EXOSC8
15 nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription GO:0071049 9.49 EXOSC3 EXOSC2
16 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.46 EXOSC9 EXOSC8 EXOSC3 EXOSC2
17 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.26 EXOSC9 EXOSC8 EXOSC3 EXOSC2
18 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.1 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1 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 EXOSC3 EXOSC2 EXOSC1
2 mRNA 3'-UTR AU-rich region binding GO:0035925 9.26 EXOSC9 EXOSC8
3 3'-5'-exoribonuclease activity GO:0000175 9.26 EXOSC9 EXOSC3 EXOSC2 DIS3
4 exoribonuclease activity GO:0004532 9.02 EXOSC9 EXOSC8 EXOSC3 EXOSC2 EXOSC1

Sources for Pontocerebellar Hypoplasia, Type 1b

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
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