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 1a. 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 phenotype is 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
Pontocerebellar Hypoplasia Type 1

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

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 5 35.0 VRK1 TSEN54
2 pontocerebellar hypoplasia, type 1a 34.9 VRK1 CHMP1A
3 pontocerebellar hypoplasia, type 6 34.9 TSEN54 TSEN34 TSEN2 RARS2
4 pontocerebellar hypoplasia, type 9 34.9 VRK1 AMPD2
5 pontocerebellar hypoplasia, type 4 34.8 TSEN54 TSEN15 TBC1D23 CLP1
6 pontocerebellar hypoplasia, type 2a 34.8 TSEN54 TSEN34 TSEN2 SEPSECS
7 pontocerebellar hypoplasia, type 3 34.8 TSEN15 TBC1D23 PCLO CLP1
8 pontocerebellar hypoplasia, type 2d 34.7 TSEN54 SEPSECS RARS2 EXOSC3 CLP1
9 pontocerebellar hypoplasia, type 1b 34.6 VRK1 EXOSC9 EXOSC8 EXOSC3
10 pontocerebellar hypoplasia, type 2e 34.6 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
11 pontocerebellar hypoplasia type 1 34.4 VRK1 TSEN54 RARS2 EXOSC9 EXOSC8 EXOSC3
12 tsen54 pontocerebellar hypoplasia 34.3 TSEN54 TSEN34 TSEN2
13 non-syndromic pontocerebellar hypoplasia 34.2 TSEN54 EXOSC3
14 mental retardation and microcephaly with pontine and cerebellar hypoplasia 33.6 VRK1 TSEN54
15 cerebellar hypoplasia 31.4 TSEN54 RARS2 EXOSC8 EXOSC3
16 polyhydramnios 30.9 VRK1 TSEN54 TSEN34 TSEN2
17 anterior horn cell disease 30.9 VRK1 TSEN54 RARS2 EXOSC3 AMPD2
18 spastic paraplegia 63, autosomal recessive 30.7 EXOSC3 AMPD2
19 peho syndrome 30.4 VRK1 TSEN54 TSEN34 TSEN2 RARS2
20 microcephaly 30.3 VRK1 VPS53 VPS51 TSEN54 TSEN34 TSEN2
21 pontocerebellar hypoplasia, type 7 12.9
22 pontocerebellar hypoplasia, type 10 12.9
23 pontocerebellar hypoplasia, type 2b 12.8
24 pontocerebellar hypoplasia, type 2c 12.8
25 pontocerebellar hypoplasia, type 11 12.8
26 pontocerebellar hypoplasia, type 8 12.8
27 pontocerebellar hypoplasia, type 2f 12.8
28 pontocerebellar hypoplasia, type 12 12.7
29 pontocerebellar hypoplasia, type 13 12.7
30 pontocerebellar hypoplasia, type 1c 12.7
31 pontocerebellar hypoplasia, type 1d 12.7
32 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 12.6
33 exosc3-related pontocerebellar hypoplasia 12.5
34 paroxysmal cold hemoglobinuria 12.3
35 cortical dysplasia, complex, with other brain malformations 1 12.0
36 x-linked intellectual disability, najm type 12.0
37 blood group, globoside system 11.2
38 hypotonia 10.6
39 spinal muscular atrophy 10.6
40 muscular atrophy 10.6
41 dystonia 10.5
42 3-methylglutaconic aciduria, type iii 10.5
43 spasticity 10.5
44 ataxia and polyneuropathy, adult-onset 10.4
45 alacrima, achalasia, and mental retardation syndrome 10.4
46 chorea, childhood-onset, with psychomotor retardation 10.4
47 choreatic disease 10.4
48 cerebral atrophy 10.4
49 hemoglobinuria 10.4
50 spinal muscular atrophy, type i 10.3

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



Diseases related to Pontocerebellar Hypoplasia

Symptoms & Phenotypes for Pontocerebellar Hypoplasia

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 AMPD2 CLP1 EXOSC3 EXOSC8 EXOSC9 PCLO

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 Marrow, Bone

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 251)
# Title Authors PMID Year
1
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels. 61
32527837 2020
2
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? 61
32360255 2020
3
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
4
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2020
5
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
6
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. 61
32259769 2020
7
Pontocerebellar Hypoplasia: a Pattern Recognition Approach. 61
32410094 2020
8
Pontocerebellar Hypoplasia Diagnosed on Autopsy: A Case Report. 61
32566419 2020
9
Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2. 61
32143824 2020
10
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
11
Prenatal diagnosis of Pontocerebellar hypoplasia associated with rare syndromes : Expanding the genetic and phenotypic spectrum. 61
32250494 2020
12
Loss of Piccolo Function in Rats Induces Cerebellar Network Dysfunction and Pontocerebellar Hypoplasia Type 3-like Phenotypes. 61
32122952 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
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. 61
31833174 2020
15
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. 61
31536827 2020
16
Levodopa-Responsive Chorea: A Review. 61
32189864 2020
17
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
18
The RNA Exosome and Human Disease. 61
31768969 2020
19
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
20
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
21
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype. 61
31687265 2019
22
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
23
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 61
31261436 2019
24
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. 61
31560180 2019
25
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
26
A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D. 61
31748115 2019
27
Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH. 61
31624125 2019
28
TSEN54 missense variant in Standard Schnauzers with leukodystrophy. 61
31584937 2019
29
Phenotypic spectrum of neonatal CHARGE syndrome. 61
31859737 2019
30
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
31
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes. 61
31527692 2019
32
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 61
30976113 2019
33
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 61
31102495 2019
34
Role of tbc1 in Drosophila embryonic salivary glands. 61
31242864 2019
35
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. 61
30924036 2019
36
Critical role for Piccolo in synaptic vesicle retrieval. 61
31074746 2019
37
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
38
Zebrin II Is Ectopically Expressed in Microglia in the Cerebellum of Neurogenin 2 Null Mice. 61
29909450 2019
39
Recent Insights Into the Structure, Function, and Evolution of the RNA-Splicing Endonucleases. 61
30809252 2019
40
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases. 61
28675887 2019
41
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. 61
30089829 2019
42
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. 61
30025162 2019
43
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. 61
30921410 2019
44
Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant. 61
31885998 2019
45
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 61
30089828 2018
46
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. 61
30151950 2018
47
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
48
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 61
29709707 2018
49
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). 61
30141626 2018
50
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. 61
30348860 2018

Variations for Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Pontocerebellar Hypoplasia:

6 (show top 50) (show all 232) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 TSEN2 NM_025265.4(TSEN2):c.522C>T (p.Asn174=)SNV Conflicting interpretations of pathogenicity 514490 rs141580750 3:12544974-12544974 3:12503475-12503475
5 TSEN34 NM_001077446.4(TSEN34):c.675A>G (p.Arg225=)SNV Conflicting interpretations of pathogenicity 515672 rs375366303 19:54696154-54696154 19:54192303-54192303
6 TSEN54 NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)SNV Conflicting interpretations of pathogenicity 805689 17:73518241-73518241 17:75522160-75522160
7 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
8 TSEN34 NM_001077446.4(TSEN34):c.786C>T (p.Cys262=)SNV Conflicting interpretations of pathogenicity 382027 rs749845322 19:54697070-54697070 19:54193215-54193215
9 TSEN2 NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)SNV Conflicting interpretations of pathogenicity 160113 rs146117200 3:12545012-12545012 3:12503513-12503513
10 TSEN2 NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)SNV Conflicting interpretations of pathogenicity 160106 rs113981920 3:12573152-12573152 3:12531653-12531653
11 TSEN2 NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)SNV Conflicting interpretations of pathogenicity 160108 rs75288720 3:12574211-12574211 3:12532712-12532712
12 TSEN54 NM_207346.3(TSEN54):c.984T>C (p.Ala328=)SNV Conflicting interpretations of pathogenicity 198936 rs776960594 17:73518146-73518146 17:75522065-75522065
13 TSEN54 NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)SNV Conflicting interpretations of pathogenicity 212450 rs369805010 17:73518329-73518329 17:75522248-75522248
14 TSEN2 NM_025265.4(TSEN2):c.1104A>G (p.Leu368=)SNV Conflicting interpretations of pathogenicity 343081 rs761076607 3:12570391-12570391 3:12528892-12528892
15 TSEN2 NM_025265.4(TSEN2):c.990A>G (p.Lys330=)SNV Conflicting interpretations of pathogenicity 343079 rs113260160 3:12560587-12560587 3:12519088-12519088
16 TSEN2 NM_025265.4(TSEN2):c.961-14G>ASNV Conflicting interpretations of pathogenicity 343078 rs748777382 3:12560544-12560544 3:12519045-12519045
17 TSEN2 NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=)SNV Conflicting interpretations of pathogenicity 343080 rs371073764 3:12560626-12560626 3:12519127-12519127
18 SEPSECS NM_016955.4(SEPSECS):c.269+9_269+12deldeletion Conflicting interpretations of pathogenicity 348554 rs748765764 4:25160563-25160566 4:25158941-25158944
19 RARS2 , SLC35A1 NM_006416.5(SLC35A1):c.*240G>TSNV Conflicting interpretations of pathogenicity 358219 rs9450722 6:88221484-88221484 6:87511766-87511766
20 TSEN54 NM_207346.3(TSEN54):c.285+12G>ASNV Conflicting interpretations of pathogenicity 325082 rs373044979 17:73513165-73513165 17:75517084-75517084
21 TSEN54 NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)SNV Conflicting interpretations of pathogenicity 325094 rs151332020 17:73519845-73519845 17:75523764-75523764
22 TSEN34 NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)SNV Conflicting interpretations of pathogenicity 330126 rs200004897 19:54695445-54695445 19:54191594-54191594
23 TSEN54 NM_207346.3(TSEN54):c.285+9C>GSNV Conflicting interpretations of pathogenicity 325081 rs200318170 17:73513162-73513162 17:75517081-75517081
24 TSEN54 NM_207346.3(TSEN54):c.286-8C>TSNV Uncertain significance 325083 rs886053395 17:73513234-73513234 17:75517153-75517153
25 TSEN54 NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val)SNV Uncertain significance 325090 rs760089379 17:73518232-73518232 17:75522151-75522151
26 TSEN34 NM_001077446.4(TSEN34):c.*849_*850AT[3]short repeat Uncertain significance 330142 rs746578183 19:54698065-54698066 19:54194210-54194211
27 TSEN34 NM_001077446.4(TSEN34):c.*993C>TSNV Uncertain significance 330146 rs535031564 19:54698213-54698213 19:54194355-54194355
28 TSEN34 NM_001282333.1(TSEN34):c.-87C>ASNV Uncertain significance 330119 rs886054622 19:54694131-54694131 19:54190280-54190280
29 TSEN34 NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro)SNV Uncertain significance 330123 rs778510316 19:54695220-54695220 19:54191369-54191369
30 TSEN34 NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys)SNV Uncertain significance 330124 rs770199288 19:54695310-54695310 19:54191459-54191459
31 TSEN34 NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro)SNV Uncertain significance 330128 rs767815202 19:54695725-54695725 19:54191874-54191874
32 TSEN34 NM_001077446.4(TSEN34):c.687G>A (p.Glu229=)SNV Uncertain significance 330130 rs886054625 19:54696166-54696166 19:54192315-54192315
33 TSEN34 NM_001077446.4(TSEN34):c.*496T>ASNV Uncertain significance 330137 rs190495812 19:54697713-54697713 19:54193858-54193858
34 TSEN54 NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln)SNV Uncertain significance 325093 rs778218563 17:73519815-73519815 17:75523734-75523734
35 TSEN34 NM_024075.5(TSEN34):c.-41G>ASNV Uncertain significance 330121 rs886054623 19:54694265-54694265 19:54190414-54190414
36 TSEN34 NM_001077446.4(TSEN34):c.183C>A (p.Ala61=)SNV Uncertain significance 330125 rs886054624 19:54695398-54695398 19:54191547-54191547
37 TSEN34 NM_001077446.4(TSEN34):c.*948C>TSNV Uncertain significance 330145 rs886054629 19:54698165-54698165 19:54194310-54194310
38 TSEN34 NM_001077446.4(TSEN34):c.*1046T>CSNV Uncertain significance 330147 rs553497009 19:54698266-54698266 19:54194408-54194408
39 TSEN54 NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser)SNV Uncertain significance 325080 rs886053394 17:73512654-73512654 17:75516573-75516573
40 TSEN34 NM_001077446.4(TSEN34):c.591C>G (p.Ala197=)SNV Uncertain significance 330129 rs781446570 19:54696070-54696070 19:54192219-54192219
41 TSEN34 NM_001077446.4(TSEN34):c.*94C>TSNV Uncertain significance 330132 rs886054626 19:54697311-54697311 19:54193456-54193456
42 TSEN54 NM_207346.3(TSEN54):c.*167T>CSNV Uncertain significance 325099 rs886053401 17:73520660-73520660 17:75524579-75524579
43 TSEN54 NM_207346.3(TSEN54):c.1452C>T (p.Asp484=)SNV Uncertain significance 325096 rs767631739 17:73520364-73520364 17:75524283-75524283
44 TSEN54 NM_207346.3(TSEN54):c.1530C>A (p.Ile510=)SNV Uncertain significance 325098 rs754461779 17:73520442-73520442 17:75524361-75524361
45 TSEN54 NM_207346.3(TSEN54):c.663G>A (p.Leu221=)SNV Uncertain significance 325085 rs886053396 17:73517825-73517825 17:75521744-75521744
46 TSEN34 NM_001077446.4(TSEN34):c.*1078deldeletion Uncertain significance 330149 rs886054630 19:54698293-54698293 19:54194435-54194435
47 TSEN54 NM_207346.3(TSEN54):c.521+9C>GSNV Uncertain significance 325084 rs753458014 17:73515137-73515137 17:75519056-75519056
48 TSEN34 NM_001077446.4(TSEN34):c.*692A>GSNV Uncertain significance 330140 rs886054627 19:54697909-54697909 19:54194054-54194054
49 SEPSECS NM_016955.4(SEPSECS):c.*3402_*3404AAT[1]short repeat Uncertain significance 348514 rs886059339 4:25122146-25122148 4:25120524-25120526
50 SEPSECS NM_016955.4(SEPSECS):c.*254_*257deldeletion Uncertain significance 348548 rs577008196 4:25125296-25125299 4:25123674-25123677

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

Pathways related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 TSEN54 TSEN34 TSEN2 TSEN15 RARS2 EXOSC9
2
Show member pathways
11.72 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
3
Show member pathways
11.19 EXOSC9 EXOSC8 EXOSC3
4
Show member pathways
10.93 TSEN54 TSEN34 TSEN2
5 10.85 EXOSC9 EXOSC8 EXOSC3 AMPD2

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 nucleoplasm GO:0005654 10.13 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
2 nucleolus GO:0005730 9.65 VRK1 VPS51 TSEN54 TSEN34 TSEN2 TSEN15
3 exosome (RNase complex) GO:0000178 9.5 EXOSC9 EXOSC8 EXOSC3
4 nuclear exosome (RNase complex) GO:0000176 9.43 EXOSC9 EXOSC8 EXOSC3
5 EARP complex GO:1990745 9.4 VPS53 VPS51
6 GARP complex GO:0000938 9.37 VPS53 VPS51
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 9.92 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
2 rRNA processing GO:0006364 9.77 EXOSC9 EXOSC8 EXOSC3
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.76 TSEN34 TSEN2 TSEN15
4 regulation of mRNA stability GO:0043488 9.74 EXOSC9 EXOSC8 EXOSC3
5 retrograde transport, endosome to Golgi GO:0042147 9.72 VPS53 VPS51 TBC1D23
6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.63 EXOSC9 EXOSC8 EXOSC3
7 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.61 EXOSC9 EXOSC8 EXOSC3
8 lysosomal transport GO:0007041 9.58 VPS53 VPS51
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 9.58 EXOSC9 EXOSC8 EXOSC3
10 rRNA catabolic process GO:0016075 9.56 EXOSC9 EXOSC8
11 tRNA processing GO:0008033 9.55 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
12 nuclear mRNA surveillance GO:0071028 9.54 EXOSC9 EXOSC8
13 U4 snRNA 3'-end processing GO:0034475 9.54 EXOSC9 EXOSC8 EXOSC3
14 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.51 EXOSC9 EXOSC8
15 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.5 EXOSC9 EXOSC8 EXOSC3
16 U5 snRNA 3'-end processing GO:0034476 9.49 EXOSC9 EXOSC8
17 U1 snRNA 3'-end processing GO:0034473 9.48 EXOSC9 EXOSC8
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 mRNA 3'-UTR AU-rich region binding GO:0035925 9.37 EXOSC9 EXOSC8
3 3'-5'-exoribonuclease activity GO:0000175 9.33 TOE1 EXOSC9 EXOSC3
4 AU-rich element binding GO:0017091 9.26 EXOSC9 EXOSC8
5 tRNA-intron endonuclease activity GO:0000213 8.96 TSEN34 TSEN2
6 exoribonuclease activity GO:0004532 8.8 EXOSC9 EXOSC8 EXOSC3

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
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