PCH1E
MCID: PNT057
MIFTS: 44

Pontocerebellar Hypoplasia, Type 1e (PCH1E)

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 1e

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1e:

Name: Pontocerebellar Hypoplasia, Type 1e 57
Pontocerebellar Hypoplasia Type 1 20 58 29 6 70
Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy 20
Pontocerebellar Hypoplasia with Anterior Horn Cell Disease 20
Hypoplasia, Pontocerebellar, Type 1 39
Norman Disease 58
Pch1e 57
Pch1 58

Characteristics:

Orphanet epidemiological data:

58
pontocerebellar hypoplasia type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in the first days or weeks of life
one patient (patient a) has been reported with significant dysmorphic features


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 619303
OMIM Phenotypic Series 57 PS607596
MESH via Orphanet 45 C548069
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 71 C1843504
Orphanet 58 ORPHA2254
UMLS 70 C1843504

Summaries for Pontocerebellar Hypoplasia, Type 1e

GARD : 20 Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, sends signals between the cerebellum and the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells, which are responsible for helping the spinal cord send signals to the muscles. Problems with the anterior horn cells cause severe muscle weakness. PCH1 is caused by mutations to EXOSC3, TSEN54, RARS2, and VRK1. The disease is inherited in an autosomal recessive manner. Diagnosis of PCH1 is based on brain imaging and tests to rule out other causes of problems with brain development. Treatment for PCH1 is aimed at relieving the symptoms of the disease. Most children with PCH1 pass away in infancy or early childhood.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1e, also known as pontocerebellar hypoplasia type 1, is related to pontocerebellar hypoplasia, type 1a and pontocerebellar hypoplasia, type 5, and has symptoms including ataxia, muscle weakness and muscular fasciculation. An important gene associated with Pontocerebellar Hypoplasia, Type 1e is EXOSC3 (Exosome Component 3), and among its related pathways/superpathways are Unfolded Protein Response (UPR) and Deadenylation-dependent mRNA decay. Affiliated tissues include brain, cerebellum and spinal cord.

OMIM® : 57 Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by Braunisch et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (619303) (Updated 20-May-2021)

Related Diseases for Pontocerebellar Hypoplasia, Type 1e

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 14
Pontocerebellar Hypoplasia, Type 15 Pontocerebellar Hypoplasia, Type 1e
Pontocerebellar Hypoplasia, Type 1f

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 1a 31.4 VRK1 CHMP1A
2 pontocerebellar hypoplasia, type 5 31.1 VRK1 TSEN54
3 pontocerebellar hypoplasia, type 6 30.8 TSEN54 RARS2
4 pontocerebellar hypoplasia, type 1b 29.9 VRK1 EXOSC9 EXOSC8 EXOSC3
5 anterior horn cell disease 29.5 VRK1 TSEN54 RARS2 EXOSC3
6 non-syndromic pontocerebellar hypoplasia 29.4 TSEN54 RARS2 EXOSC3
7 polyhydramnios 29.4 VRK1 TSEN54
8 pontocerebellar hypoplasia 29.4 VRK1 TSEN54 SLC25A46 RARS2 EXOSC9 EXOSC8
9 3-methylglutaconic aciduria, type iii 29.2 TSEN54 SLC25A46 RARS2
10 pontocerebellar hypoplasia, type 4 10.9
11 pontocerebellar hypoplasia, type 2a 10.9
12 pontocerebellar hypoplasia, type 3 10.9
13 pontocerebellar hypoplasia, type 2b 10.9
14 pontocerebellar hypoplasia, type 2c 10.9
15 pontocerebellar hypoplasia, type 8 10.9
16 pontocerebellar hypoplasia, type 7 10.9
17 pontocerebellar hypoplasia, type 10 10.9
18 pontocerebellar hypoplasia, type 9 10.9
19 pontocerebellar hypoplasia, type 11 10.9
20 exosc3 pontocerebellar hypoplasia 10.4
21 spinal muscular atrophy, type i 10.3
22 spinal muscular atrophy, x-linked 2 10.3
23 microcephaly 10.3
24 olivopontocerebellar atrophy 10.3
25 hypotonia 10.3
26 congenital amyoplasia 10.3
27 ataxia and polyneuropathy, adult-onset 10.3
28 congenital disorders of n-linked glycosylation and multiple pathway 10.2
29 spinal muscular atrophy 10.1
30 muscular atrophy 10.1
31 spinocerebellar ataxia 1 10.1
32 retinitis pigmentosa 10.1
33 neuropathy, ataxia, and retinitis pigmentosa 10.1
34 bainbridge-ropers syndrome 10.1
35 neuroretinitis 10.1
36 respiratory failure 10.1
37 autosomal dominant cerebellar ataxia 10.1
38 cerebral palsy 10.1
39 motor neuron disease 10.1
40 retinitis 10.1
41 dystonia 10.1
42 mitochondrial metabolism disease 10.1
43 axonal neuropathy 10.1
44 pathologic nystagmus 10.1
45 congenital contractures 10.1
46 dysphagia 10.1
47 hypertonia 10.1
48 spasticity 10.1
49 aortic valve prolapse 10.0 EXOSC9 EXOSC8
50 pontocerebellar hypoplasia, type 2d 10.0 RARS2 EXOSC3

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



Diseases related to Pontocerebellar Hypoplasia, Type 1e

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1e

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory:
respiratory failure

Muscle Soft Tissue:
hypotonia
neurogenic atrophy

Head And Neck Face:
dysmorphic facial features (in some patients)

Skeletal:
contractures (patient a)

Head And Neck Ears:
abnormal ears (patient a)

Head And Neck Mouth:
tented upper lip (patient a)
narrow palate (patient a)

Skeletal Hands:
tapered fingers (patient a)

Head And Neck Eyes:
nystagmus
optic atrophy
exotropia
progressive visual impairment
rod-cone dysfunction

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
cerebellar atrophy
seizures (in some patients)
pontocerebellar hypoplasia
lack of spontaneous movement
hypotonia, severe, neonatal
more
Neurologic Peripheral Nervous System:
peripheral motor neuropathy

Laboratory Abnormalities:
increased serum lactate (in some patients)

Head And Neck Head:
bitemporal narrowing (patient a)

Head And Neck Nose:
upturned nose (patient a)
bulbous nasal tip (patient a)

Chest Breasts:
inverted nipples (patient a)

Clinical features from OMIM®:

619303 (Updated 20-May-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 1e:


ataxia; muscle weakness; muscular fasciculation; weakness

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1e

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

Genetic Tests for Pontocerebellar Hypoplasia, Type 1e

Genetic tests related to Pontocerebellar Hypoplasia, Type 1e:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 1 29

Anatomical Context for Pontocerebellar Hypoplasia, Type 1e

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

40
Brain, Cerebellum, Spinal Cord, Eye, Pons

Publications for Pontocerebellar Hypoplasia, Type 1e

Articles related to Pontocerebellar Hypoplasia, Type 1e:

(show all 46)
# Title Authors PMID Year
1
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. 61 6
29656927 2018
2
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. 61 6
25149867 2014
3
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. 6 61
24524299 2014
4
Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. 6 61
23883322 2013
5
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 6 61
23975261 2013
6
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. 6 61
22544365 2012
7
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. 6 61
19646678 2009
8
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy. 6
31837156 2020
9
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 6
31167812 2019
10
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes. 6
31527692 2019
11
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. 57
28653766 2018
12
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. 6
28687512 2017
13
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. 57
28637197 2017
14
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. 6
27777260 2017
15
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. 57
27543974 2016
16
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. 57
27390132 2016
17
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
18
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. 6
27281532 2016
19
Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease. 6
26583493 2015
20
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 57
26168012 2015
21
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. 6
25809939 2015
22
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
23
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 6
24989451 2014
24
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. 6
24126608 2013
25
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 6
23564332 2013
26
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
27
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 57
8147499 1993
28
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
29
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
30
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 61
30976113 2019
31
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. 61
29316359 2018
32
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. 61
24891912 2014
33
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. 61
23284067 2013
34
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. 61
21468723 2011
35
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 61
20952379 2011
36
Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement. 61
20558670 2010
37
Delayed gyration with pontocerebellar hypoplasia type 1. 61
19243903 2010
38
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. 61
19302945 2009
39
Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox. 61
19359782 2009
40
Pontocerebellar hypoplasia type 1. 61
18805371 2008
41
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? 61
17681808 2008
42
[Pontocerebellar hypoplasia type 1: a case report]. 61
17342678 2007
43
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 61
12731647 2003
44
Analysis and classification of cerebellar malformations. 61
12169461 2002
45
Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. 61
10814903 2000
46
Pontocerebellar hypoplasia associated with respiratory-chain defects. 61
10401692 1999

Variations for Pontocerebellar Hypoplasia, Type 1e

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

6 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXOSC3 NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) SNV Pathogenic 31689 rs387907195 GRCh37: 9:37783970-37783970
GRCh38: 9:37783973-37783973
2 EXOSC3 NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) Deletion Pathogenic 31690 rs672601331 GRCh37: 9:37784739-37784748
GRCh38: 9:37784742-37784751
3 EXOSC3 NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) SNV Pathogenic 31692 rs672601332 GRCh37: 9:37780792-37780792
GRCh38: 9:37780795-37780795
4 EXOSC3 NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) SNV Pathogenic 183048 rs730882145 GRCh37: 9:37782038-37782038
GRCh38: 9:37782041-37782041
5 EXOSC3 NM_016042.4(EXOSC3):c.112del (p.Glu38fs) Deletion Pathogenic 129023 rs587780333 GRCh37: 9:37784930-37784930
GRCh38: 9:37784933-37784933
6 EXOSC8 NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) SNV Pathogenic 157609 rs606231285 GRCh37: 13:37574947-37574947
GRCh38: 13:37000810-37000810
7 EXOSC3 NM_016042.4(EXOSC3):c.155del (p.Pro52fs) Deletion Pathogenic 280004 rs886041316 GRCh37: 9:37784887-37784887
GRCh38: 9:37784890-37784890
8 EXOSC8 NM_181503.3(EXOSC8):c.31_32dup (p.Glu12fs) Microsatellite Pathogenic 1027900 GRCh37: 13:37576420-37576421
GRCh38: 13:37002283-37002284
9 EXOSC3 NM_016042.4(EXOSC3):c.725_735del (p.Lys242fs) Deletion Pathogenic 1033392 GRCh37: 9:37780769-37780779
GRCh38: 9:37780772-37780782
10 VRK1 NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) SNV Pathogenic 30243 rs387906830 GRCh37: 14:97319190-97319190
GRCh38: 14:96852853-96852853
11 VRK1 NM_003384.3(VRK1):c.879_882AAAC[1] (p.Lys295fs) Microsatellite Pathogenic 464942 rs779282547 GRCh37: 14:97322913-97322916
GRCh38: 14:96856576-96856579
12 VRK1 NM_003384.3(VRK1):c.706G>A (p.Val236Met) SNV Pathogenic 218924 rs771364038 GRCh37: 14:97321690-97321690
GRCh38: 14:96855353-96855353
13 VRK1 NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) SNV Pathogenic 533537 rs772263867 GRCh37: 14:97312480-97312480
GRCh38: 14:96846143-96846143
14 VRK1 NM_003384.3(VRK1):c.6del (p.Arg3fs) Deletion Pathogenic 533538 rs780789145 GRCh37: 14:97299814-97299814
GRCh38: 14:96833477-96833477
15 VRK1 NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) SNV Pathogenic 209205 rs772731615 GRCh37: 14:97326965-97326965
GRCh38: 14:96860628-96860628
16 VRK1 NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) SNV Pathogenic 197213 rs773138218 GRCh37: 14:97312481-97312481
GRCh38: 14:96846144-96846144
17 VRK1 NC_000014.9:g.(?_96846075)_(96847364_?)del Deletion Pathogenic 584083 GRCh37: 14:97312412-97313701
GRCh38: 14:96846075-96847364
18 VRK1 NC_000014.9:g.(?_96856120)_(96860745_?)del Deletion Pathogenic 643149 GRCh37: 14:97322457-97327082
GRCh38: 14:96856120-96860745
19 VRK1 NM_003384.3(VRK1):c.362_365del (p.Lys121fs) Deletion Pathogenic 644618 rs772146380 GRCh37: 14:97313668-97313671
GRCh38: 14:96847331-96847334
20 VRK1 NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) SNV Pathogenic 654056 rs1223645705 GRCh37: 14:97327070-97327070
GRCh38: 14:96860733-96860733
21 VRK1 NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) SNV Pathogenic 619220 rs1566713184 GRCh37: 14:97326980-97326980
GRCh38: 14:96860643-96860643
22 VRK1 NC_000014.9:g.(?_96810669)_(96860745_?)del Deletion Pathogenic 657389 GRCh37: 14:97277006-97327082
GRCh38: 14:96810669-96860745
23 VRK1 NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) SNV Pathogenic 846403 GRCh37: 14:97321644-97321644
GRCh38: 14:96855307-96855307
24 VRK1 NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) Deletion Pathogenic 847284 GRCh37: 14:97299817-97299817
GRCh38: 14:96833480-96833480
25 VRK1 NC_000014.9:g.(?_96846085)_(96847354_?)del Deletion Pathogenic 832438 GRCh37: 14:97312422-97313691
GRCh38:
26 VRK1 NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) SNV Pathogenic 861842 GRCh37: 14:97299964-97299964
GRCh38: 14:96833627-96833627
27 VRK1 NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) SNV Pathogenic 7497 rs137853063 GRCh37: 14:97342370-97342370
GRCh38: 14:96876033-96876033
28 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) SNV Pathogenic 31691 rs387907196 GRCh37: 9:37784950-37784950
GRCh38: 9:37784953-37784953
29 VRK1 NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) SNV Pathogenic 7497 rs137853063 GRCh37: 14:97342370-97342370
GRCh38: 14:96876033-96876033
30 EXOSC3 NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) SNV Pathogenic/Likely pathogenic 31688 rs141138948 GRCh37: 9:37783990-37783990
GRCh38: 9:37783993-37783993
31 VRK1 NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) SNV Pathogenic/Likely pathogenic 197213 rs773138218 GRCh37: 14:97312481-97312481
GRCh38: 14:96846144-96846144
32 VRK1 NM_003384.2(VRK1):c.318_889+1945del Deletion Likely pathogenic 567048 GRCh37: 14:97313625-97324868
GRCh38: 14:96847288-96858531
33 VRK1 NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) SNV Likely pathogenic 619220 rs1566713184 GRCh37: 14:97326980-97326980
GRCh38: 14:96860643-96860643
34 VRK1 NM_003384.3(VRK1):c.889+1G>A SNV Likely pathogenic 941929 GRCh37: 14:97322924-97322924
GRCh38: 14:96856587-96856587
35 VRK1 NM_003384.3(VRK1):c.889+1G>T SNV Likely pathogenic 945901 GRCh37: 14:97322924-97322924
GRCh38: 14:96856587-96856587
36 CHMP1A NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) SNV Likely pathogenic 522948 rs1064794609 GRCh37: 16:89713646-89713646
GRCh38: 16:89647238-89647238
37 VRK1 NM_003384.3(VRK1):c.356A>G (p.His119Arg) SNV Likely pathogenic 209204 rs371295780 GRCh37: 14:97313663-97313663
GRCh38: 14:96847326-96847326
38 VRK1 NM_003384.3(VRK1):c.156_160+3del Deletion Likely pathogenic 624564 rs1566696845 GRCh37: 14:97299962-97299969
GRCh38: 14:96833625-96833632
39 EXOSC3 NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) SNV Likely pathogenic 210965 rs797045567 GRCh37: 9:37782037-37782037
GRCh38: 9:37782040-37782040
40 VRK1 NM_003384.3(VRK1):c.402_890-895del Deletion Likely pathogenic 842535 GRCh37: 14:97319190-97325994
GRCh38: 14:96852853-96859657
41 EXOSC3 NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) SNV Likely pathogenic 129024 rs374550999 GRCh37: 9:37784804-37784804
GRCh38: 9:37784807-37784807
42 VRK1 NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) SNV Likely pathogenic 996133 GRCh37: 14:97322545-97322545
GRCh38: 14:96856208-96856208
43 VRK1 NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) Insertion Likely pathogenic 971948 GRCh37: 14:97342430-97342431
GRCh38: 14:96876093-96876094
44 EXOSC3 NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) SNV Conflicting interpretations of pathogenicity 746975 rs145677716 GRCh37: 9:37784989-37784989
GRCh38: 9:37784992-37784992
45 EXOSC3 NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) SNV Conflicting interpretations of pathogenicity 746976 rs147135294 GRCh37: 9:37784990-37784990
GRCh38: 9:37784993-37784993
46 EXOSC3 NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) SNV Conflicting interpretations of pathogenicity 366878 rs148348866 GRCh37: 9:37784876-37784876
GRCh38: 9:37784879-37784879
47 VRK1 NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) SNV Conflicting interpretations of pathogenicity 209205 rs772731615 GRCh37: 14:97326965-97326965
GRCh38: 14:96860628-96860628
48 VRK1 NM_003384.3(VRK1):c.*211A>G SNV Uncertain significance 315126 rs886050949 GRCh37: 14:97347756-97347756
GRCh38: 14:96881419-96881419
49 VRK1 NM_003384.3(VRK1):c.1069-9A>G SNV Uncertain significance 315124 rs767585930 GRCh37: 14:97342358-97342358
GRCh38: 14:96876021-96876021
50 VRK1 NM_003384.3(VRK1):c.*107A>G SNV Uncertain significance 315125 rs375987917 GRCh37: 14:97347652-97347652
GRCh38: 14:96881315-96881315

Expression for Pontocerebellar Hypoplasia, Type 1e

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

Pathways for Pontocerebellar Hypoplasia, Type 1e

GO Terms for Pontocerebellar Hypoplasia, Type 1e

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

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.73 VRK1 TSEN54 EXOSC9 EXOSC8 EXOSC3 AGTPBP1
2 exosome (RNase complex) GO:0000178 9.33 EXOSC9 EXOSC8 EXOSC3
3 nuclear exosome (RNase complex) GO:0000176 9.13 EXOSC9 EXOSC8 EXOSC3
4 cytoplasmic exosome (RNase complex) GO:0000177 8.8 EXOSC9 EXOSC8 EXOSC3

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.7 EXOSC9 EXOSC8 EXOSC3
2 regulation of mRNA stability GO:0043488 9.67 EXOSC9 EXOSC8 EXOSC3
3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.54 EXOSC9 EXOSC8 EXOSC3
4 rRNA catabolic process GO:0016075 9.51 EXOSC9 EXOSC8
5 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.5 EXOSC9 EXOSC8 EXOSC3
6 nuclear mRNA surveillance GO:0071028 9.48 EXOSC9 EXOSC8
7 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.46 EXOSC9 EXOSC8
8 U5 snRNA 3'-end processing GO:0034476 9.43 EXOSC9 EXOSC8
9 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.43 EXOSC9 EXOSC8 EXOSC3
10 U1 snRNA 3'-end processing GO:0034473 9.4 EXOSC9 EXOSC8
11 U4 snRNA 3'-end processing GO:0034475 9.33 EXOSC9 EXOSC8 EXOSC3
12 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.13 EXOSC9 EXOSC8 EXOSC3
13 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 8.8 EXOSC9 EXOSC8 EXOSC3

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

# Name GO ID Score Top Affiliating Genes
1 3'-5'-exoribonuclease activity GO:0000175 9.16 EXOSC9 EXOSC3
2 mRNA 3'-UTR AU-rich region binding GO:0035925 8.96 EXOSC9 EXOSC8
3 exoribonuclease activity GO:0004532 8.8 EXOSC9 EXOSC8 EXOSC3

Sources for Pontocerebellar Hypoplasia, Type 1e

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....