PCH
MCID: PNT019
MIFTS: 46

Pontocerebellar Hypoplasia (PCH)

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

Aliases & Classifications for Pontocerebellar Hypoplasia

MalaCards integrated aliases for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 12 52 25 36 43 15
Pch 12 25
Congenital Pontocerebellar Hypoplasia 25
Pontoneocerebellar Hypoplasia 71
Hypoplasia, Pontocerebellar 39
Opch 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0060264
KEGG 36 H00897
MeSH 43 C580383
SNOMED-CT 67 45163000
UMLS 71 C0266468 C1261175

Summaries for Pontocerebellar Hypoplasia

Genetics Home Reference : 25 Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.

MalaCards based summary : Pontocerebellar Hypoplasia, also known as pch, is related to pontocerebellar hypoplasia, type 5 and pontocerebellar hypoplasia, type 4. An important gene associated with Pontocerebellar Hypoplasia is TBC1D23 (TBC1 Domain Family Member 23), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and mRNA surveillance pathway. Affiliated tissues include cerebellum, pons and brain, and related phenotypes are Increased simian virus 40 (SV40) infection and mortality/aging

Disease Ontology : 12 A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.

NIH Rare Diseases : 52 Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons . The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. Several forms of PCH have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability . Although each form has a different genetic cause, they are all inherited in an autosomal recessive manner. Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood. Treatment is symptomatic and supportive.

KEGG : 36 Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.

Wikipedia : 74 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by... more...

Related Diseases for Pontocerebellar Hypoplasia

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
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1

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

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 5 35.0 VRK1 TSEN54
2 pontocerebellar hypoplasia, type 4 34.9 TSEN54 TSEN15 TBC1D23
3 pontocerebellar hypoplasia, type 6 34.9 TSEN54 TSEN34 TSEN2 RARS2
4 pontocerebellar hypoplasia, type 3 34.9 TSEN15 TBC1D23 PCLO
5 pontocerebellar hypoplasia, type 9 34.8 VRK1 AMPD2
6 pontocerebellar hypoplasia, type 2a 34.8 TSEN54 TSEN34 TSEN2 SEPSECS
7 pontocerebellar hypoplasia, type 1a 34.7 VRK1 CHMP1A
8 pontocerebellar hypoplasia, type 1b 34.6 VRK1 EXOSC9 EXOSC8 EXOSC3
9 pontocerebellar hypoplasia, type 2e 34.5 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
10 pontocerebellar hypoplasia, type 2d 34.5 VRK1 TSEN54 SEPSECS RARS2 EXOSC3 CLP1
11 pontocerebellar hypoplasia type 1 34.3 VRK1 TSEN54 RARS2 EXOSC9 EXOSC8 EXOSC3
12 tsen54-related pontocerebellar hypoplasia 34.3 TSEN54 TSEN34 TSEN2
13 pontocerebellar hypoplasia, type 8 34.2 VRK1 CHMP1A
14 non-syndromic pontocerebellar hypoplasia 34.2 TSEN54 EXOSC3
15 mental retardation and microcephaly with pontine and cerebellar hypoplasia 33.8 VRK1 TSEN54 CASK
16 anterior horn cell disease 31.0 VRK1 TSEN54 EXOSC3
17 polyhydramnios 31.0 VRK1 TSEN54 TSEN34
18 spastic paraplegia 63, autosomal recessive 30.7 TBC1D23 EXOSC3 AMPD2
19 microcephaly 30.1 VRK1 VPS53 TSEN54 TSEN34 TSEN2 TSEN15
20 pontocerebellar hypoplasia, type 7 12.9
21 pontocerebellar hypoplasia, type 10 12.8
22 pontocerebellar hypoplasia, type 2b 12.8
23 pontocerebellar hypoplasia, type 2c 12.8
24 pontocerebellar hypoplasia, type 11 12.8
25 pontocerebellar hypoplasia, type 2f 12.8
26 pontocerebellar hypoplasia, type 12 12.7
27 pontocerebellar hypoplasia, type 1c 12.7
28 pontocerebellar hypoplasia, type 1d 12.7
29 pontocerebellar hypoplasia, type 13 12.6
30 exosc3-related pontocerebellar hypoplasia 12.5
31 paroxysmal cold hemoglobinuria 12.3
32 cortical dysplasia, complex, with other brain malformations 1 12.0
33 x-linked intellectual disability, najm type 12.0
34 blood group, globoside system 11.2
35 hypotonia 10.6
36 spinal muscular atrophy 10.6
37 muscular atrophy 10.6
38 cerebellar hypoplasia 10.6
39 dystonia 10.5
40 spasticity 10.5
41 3-methylglutaconic aciduria, type iii 10.5
42 ataxia and polyneuropathy, adult-onset 10.4
43 alacrima, achalasia, and mental retardation syndrome 10.4
44 chorea, childhood-onset, with psychomotor retardation 10.4
45 choreatic disease 10.4
46 cerebral atrophy 10.4
47 hemoglobinuria 10.4
48 spinal muscular atrophy, type i 10.3
49 alkuraya-kucinskas syndrome 10.3
50 autosomal recessive disease 10.3

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



Diseases related to Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Pontocerebellar Hypoplasia

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 CASK COASY VRK1

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 AMPD2 CASK CLP1 EXOSC3 EXOSC8 EXOSC9

Drugs & Therapeutics for Pontocerebellar Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868

Search NIH Clinical Center for Pontocerebellar Hypoplasia

Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

Anatomical Context for Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

40
Cerebellum, Pons, Brain, Spinal Cord, Eye, Bone, Bone Marrow

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 240)
# Title Authors PMID Year
1
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
2
The RNA Exosome and Human Disease. 61
31768969 2020
3
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
4
Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis. 61
31929969 2019
5
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype. 61
31687265 2019
6
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
7
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2019
8
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 61
31261436 2019
9
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. 61
31833174 2019
10
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2019
11
A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D. 61
31748115 2019
12
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
13
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. 61
31560180 2019
14
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2019
15
Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH. 61
31624125 2019
16
Identification and in Silico Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia. 61
31736593 2019
17
Phenotypic spectrum of neonatal CHARGE syndrome. 61
31859737 2019
18
TSEN54 missense variant in Standard Schnauzers with leukodystrophy. 61
31584937 2019
19
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. 61
31536827 2019
20
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 61
30976113 2019
21
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes. 61
31527692 2019
22
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 61
31102495 2019
23
Role of tbc1 in Drosophila embryonic salivary glands. 61
31242864 2019
24
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. 61
30924036 2019
25
Critical role for Piccolo in synaptic vesicle retrieval. 61
31074746 2019
26
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
27
Zebrin II Is Ectopically Expressed in Microglia in the Cerebellum of Neurogenin 2 Null Mice. 61
29909450 2019
28
Recent Insights Into the Structure, Function, and Evolution of the RNA-Splicing Endonucleases. 61
30809252 2019
29
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. 61
30025162 2019
30
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases. 61
28675887 2019
31
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. 61
30089829 2019
32
Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant. 61
31885998 2019
33
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. 61
30921410 2019
34
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 61
30089828 2018
35
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. 61
30151950 2018
36
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 61
30289607 2018
37
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 61
29709707 2018
38
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 61
30141626 2018
39
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. 61
30348860 2018
40
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. 61
29464431 2018
41
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 61
29967526 2018
42
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. 61
30006346 2018
43
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. 61
29791932 2018
44
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. 61
29656927 2018
45
Novel CASK mutations in cases with syndromic microcephaly. 61
29691940 2018
46
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. 61
30044992 2018
47
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. 61
29903031 2018
48
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 61
29881806 2018
49
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. 61
29307788 2018
50
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. 61
29463858 2018

Variations for Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Pontocerebellar Hypoplasia:

6 (show top 50) (show all 252) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D23 NM_001199198.3(TBC1D23):c.1473_1474TG[1] (p.Val492fs)short repeat Pathogenic 397553 rs1553730872 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>GSNV Pathogenic 397555 rs1553731605 3:100035033-100035033 3:100316189-100316189
4 RARS2 NM_020320.5(RARS2):c.879-6T>CSNV Conflicting interpretations of pathogenicity 358234 rs117516147 6:88234376-88234376 6:87524658-87524658
5 RARS2 NM_020320.5(RARS2):c.-13C>TSNV Conflicting interpretations of pathogenicity 358241 rs200228607 6:88299688-88299688 6:87589970-87589970
6 RARS2 , SLC35A1 NM_006416.5(SLC35A1):c.*240G>TSNV Conflicting interpretations of pathogenicity 358219 rs9450722 6:88221484-88221484 6:87511766-87511766
7 EXOSC3 NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)SNV Conflicting interpretations of pathogenicity 366878 rs148348866 9:37784876-37784876 9:37784879-37784879
8 RARS2 NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)SNV Conflicting interpretations of pathogenicity 358238 rs749061654 6:88272472-88272472 6:87562754-87562754
9 RARS2 NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)SNV Conflicting interpretations of pathogenicity 358237 rs143389605 6:88258318-88258318 6:87548600-87548600
10 RARS2 NM_020320.5(RARS2):c.207A>G (p.Ala69=)SNV Conflicting interpretations of pathogenicity 358239 rs568483789 6:88273854-88273854 6:87564136-87564136
11 EXOSC3 NM_016042.4(EXOSC3):c.-11T>CSNV Conflicting interpretations of pathogenicity 366879 rs373191549 9:37785052-37785052 9:37785055-37785055
12 TSEN54 NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)SNV Conflicting interpretations of pathogenicity 325087 rs200683263 17:73517929-73517929 17:75521848-75521848
13 VRK1 NM_003384.3(VRK1):c.375-8G>CSNV Conflicting interpretations of pathogenicity 315122 rs191021502 14:97319160-97319160 14:96852823-96852823
14 TSEN54 NM_207346.3(TSEN54):c.285+12G>ASNV Conflicting interpretations of pathogenicity 325082 rs373044979 17:73513165-73513165 17:75517084-75517084
15 TSEN54 NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)SNV Conflicting interpretations of pathogenicity 325088 rs199682817 17:73518024-73518024 17:75521943-75521943
16 TSEN54 NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)SNV Conflicting interpretations of pathogenicity 325094 rs151332020 17:73519845-73519845 17:75523764-75523764
17 TSEN34 NM_024075.5(TSEN34):c.-5+15G>ASNV Conflicting interpretations of pathogenicity 330122 rs141003293 19:54694316-54694316 19:54190465-54190465
18 TSEN34 NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)SNV Conflicting interpretations of pathogenicity 330126 rs200004897 19:54695445-54695445 19:54191594-54191594
19 TSEN54 NM_207346.3(TSEN54):c.285+9C>GSNV Conflicting interpretations of pathogenicity 325081 rs200318170 17:73513162-73513162 17:75517081-75517081
20 TSEN54 NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)SNV Conflicting interpretations of pathogenicity 325086 rs141249409 17:73517854-73517854 17:75521773-75521773
21 TSEN2 NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)SNV Conflicting interpretations of pathogenicity 160113 rs146117200 3:12545012-12545012 3:12503513-12503513
22 TSEN2 NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)SNV Conflicting interpretations of pathogenicity 160106 rs113981920 3:12573152-12573152 3:12531653-12531653
23 TSEN2 NM_025265.4(TSEN2):c.272-4C>GSNV Conflicting interpretations of pathogenicity 160110 rs41293385 3:12538013-12538013 3:12496514-12496514
24 TSEN54 NM_207346.3(TSEN54):c.624-9G>ASNV Conflicting interpretations of pathogenicity 160138 rs138719855 17:73517777-73517777 17:75521696-75521696
25 TSEN34 NM_001077446.4(TSEN34):c.39G>A (p.Val13=)SNV Conflicting interpretations of pathogenicity 160120 rs184898622 19:54695254-54695254 19:54191403-54191403
26 TSEN54 NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)SNV Conflicting interpretations of pathogenicity 193767 rs138560086 17:73519798-73519798 17:75523717-75523717
27 TSEN54 NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)SNV Conflicting interpretations of pathogenicity 197401 rs148146916 17:73513281-73513281 17:75517200-75517200
28 TSEN54 NM_207346.3(TSEN54):c.984T>C (p.Ala328=)SNV Conflicting interpretations of pathogenicity 198936 rs776960594 17:73518146-73518146 17:75522065-75522065
29 RARS2 NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)SNV Conflicting interpretations of pathogenicity 215054 rs142348911 6:88224688-88224688 6:87514970-87514970
30 RARS2 NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)SNV Conflicting interpretations of pathogenicity 215068 rs147844153 6:88228397-88228397 6:87518679-87518679
31 RARS2 NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)SNV Conflicting interpretations of pathogenicity 130094 rs73496064 6:88273906-88273906 6:87564188-87564188
32 TSEN54 NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])duplication Conflicting interpretations of pathogenicity 96674 rs398124622 17:73512643-73512644 17:75516562-75516563
33 SEPSECS NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)SNV Conflicting interpretations of pathogenicity 130286 rs61747281 4:25153606-25153606 4:25151984-25151984
34 RARS2 NM_020320.5(RARS2):c.-8A>CSNV Conflicting interpretations of pathogenicity 138893 rs28381459 6:88299683-88299683 6:87589965-87589965
35 RARS2 NM_020320.5(RARS2):c.888G>C (p.Thr296=)SNV Conflicting interpretations of pathogenicity 138896 rs145189950 6:88234361-88234361 6:87524643-87524643
36 RARS2 NM_020320.5(RARS2):c.975-14C>TSNV Conflicting interpretations of pathogenicity 138897 rs199941996 6:88231256-88231256 6:87521538-87521538
37 TSEN2 NM_025265.4(TSEN2):c.990A>G (p.Lys330=)SNV Conflicting interpretations of pathogenicity 343079 rs113260160 3:12560587-12560587 3:12519088-12519088
38 TSEN2 NM_025265.4(TSEN2):c.-20G>ASNV Conflicting interpretations of pathogenicity 343066 rs9871742 3:12526377-12526377 3:12484878-12484878
39 TSEN2 NM_025265.4(TSEN2):c.961-14G>ASNV Conflicting interpretations of pathogenicity 343078 rs748777382 3:12560544-12560544 3:12519045-12519045
40 TSEN2 NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=)SNV Conflicting interpretations of pathogenicity 343080 rs371073764 3:12560626-12560626 3:12519127-12519127
41 TSEN2 NM_025265.4(TSEN2):c.1104A>G (p.Leu368=)SNV Conflicting interpretations of pathogenicity 343081 rs761076607 3:12570391-12570391 3:12528892-12528892
42 SEPSECS NM_016955.4(SEPSECS):c.269+9_269+12deldeletion Conflicting interpretations of pathogenicity 348554 rs748765764 4:25160563-25160566 4:25158941-25158944
43 SEPSECS NM_016955.4(SEPSECS):c.*3402A>GSNV Uncertain significance 348515 rs149506792 4:25122151-25122151 4:25120529-25120529
44 SEPSECS NM_016955.4(SEPSECS):c.*2990G>CSNV Uncertain significance 348519 rs555513125 4:25122563-25122563 4:25120941-25120941
45 SEPSECS NM_016955.4(SEPSECS):c.*2840T>CSNV Uncertain significance 348520 rs144070806 4:25122713-25122713 4:25121091-25121091
46 SEPSECS NM_016955.4(SEPSECS):c.*1635G>ASNV Uncertain significance 348530 rs886059346 4:25123918-25123918 4:25122296-25122296
47 SEPSECS NM_016955.4(SEPSECS):c.*1622T>CSNV Uncertain significance 348531 rs886059347 4:25123931-25123931 4:25122309-25122309
48 SEPSECS NM_016955.4(SEPSECS):c.*1614T>CSNV Uncertain significance 348533 rs151120379 4:25123939-25123939 4:25122317-25122317
49 SEPSECS NM_016955.3(SEPSECS):c.-119_-115delGTTTTshort repeat Uncertain significance 348555 rs779134137 4:25162106-25162110 4:25160484-25160488
50 SEPSECS NM_016955.3(SEPSECS):c.-141_-140dupTTduplication Uncertain significance 348557 rs536637971 4:25162130-25162131 4:25160508-25160509

Expression for Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for Pontocerebellar Hypoplasia

Pathways related to Pontocerebellar Hypoplasia according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 mRNA surveillance pathway hsa03015
3 RNA degradation hsa03018

GO Terms for Pontocerebellar Hypoplasia

Cellular components related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
2 cytosol GO:0005829 10.18 VRK1 VPS53 TSEN2 TBC1D23 SEPSECS EXOSC9
3 nucleoplasm GO:0005654 10.11 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
4 nucleolus GO:0005730 9.65 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
5 exosome (RNase complex) GO:0000178 9.5 EXOSC9 EXOSC8 EXOSC3
6 nuclear exosome (RNase complex) GO:0000176 9.43 EXOSC9 EXOSC8 EXOSC3
7 cytoplasmic exosome (RNase complex) GO:0000177 9.33 EXOSC9 EXOSC8 EXOSC3
8 tRNA-intron endonuclease complex GO:0000214 8.92 TSEN54 TSEN34 TSEN2 CLP1

Biological processes related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.95 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
2 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.78 TSEN54 TSEN34 TSEN2 TSEN15
3 rRNA processing GO:0006364 9.77 EXOSC9 EXOSC8 EXOSC3
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.76 TSEN34 TSEN2 TSEN15
5 regulation of mRNA stability GO:0043488 9.75 EXOSC9 EXOSC8 EXOSC3
6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.67 EXOSC9 EXOSC8 EXOSC3
7 RNA phosphodiester bond hydrolysis GO:0090501 9.67 TSEN54 TSEN34 TSEN2 TSEN15
8 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.63 EXOSC9 EXOSC8 EXOSC3
9 U4 snRNA 3'-end processing GO:0034475 9.61 EXOSC9 EXOSC8 EXOSC3
10 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.58 EXOSC9 EXOSC8 EXOSC3
11 rRNA catabolic process GO:0016075 9.57 EXOSC9 EXOSC8
12 nuclear mRNA surveillance GO:0071028 9.56 EXOSC9 EXOSC8
13 tRNA processing GO:0008033 9.55 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
14 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.54 EXOSC9 EXOSC8
15 U5 snRNA 3'-end processing GO:0034476 9.52 EXOSC9 EXOSC8
16 U1 snRNA 3'-end processing GO:0034473 9.51 EXOSC9 EXOSC8
17 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.5 EXOSC9 EXOSC8 EXOSC3
18 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.43 EXOSC9 EXOSC8 EXOSC3
19 tRNA-type intron splice site recognition and cleavage GO:0000379 9.13 TSEN54 TSEN34 TSEN2
20 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.02 TSEN54 TSEN34 TSEN2 TSEN15 CLP1

Molecular functions related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.5 TSEN34 TSEN2 TSEN15
2 endonuclease activity GO:0004519 9.43 TSEN34 TSEN2 TSEN15
3 mRNA 3'-UTR AU-rich region binding GO:0035925 9.37 EXOSC9 EXOSC8
4 3'-5'-exoribonuclease activity GO:0000175 9.33 TOE1 EXOSC9 EXOSC3
5 exoribonuclease activity GO:0004532 9.13 EXOSC9 EXOSC8 EXOSC3
6 tRNA-intron endonuclease activity GO:0000213 8.92 TSEN54 TSEN34 TSEN2 TSEN15

Sources for Pontocerebellar Hypoplasia

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
Content
Loading form....