PCH
MCID: PNT019
MIFTS: 46

Pontocerebellar Hypoplasia (PCH)

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Pontocerebellar Hypoplasia

MalaCards integrated aliases for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 11 19 42 5 43 14 75 33
Congenital Pontocerebellar Hypoplasia 42 5
Pch 11 42
Nonsyndromic Pontocerebellar Hypoplasia 33
Pontoneocerebellar Hypoplasia 71
Hypoplasia, Pontocerebellar 38
Opch 42

Classifications:



External Ids:

Disease Ontology 11 DOID:0060264
MeSH 43 C580383
SNOMED-CT 68 45163000
ICD11 33 1565266279
UMLS 71 C0266468 C1261175

Summaries for Pontocerebellar Hypoplasia

MedlinePlus Genetics: 42 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 congenital pontocerebellar hypoplasia, is related to pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia, type 6. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and tRNA processing. Affiliated tissues include pons, cerebellum and brain, and related phenotype is mortality/aging.

GARD: 19 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.

Disease Ontology: 11 A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.

Wikipedia: 75 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 Pontocerebellar Hypoplasia, Type 14
Pontocerebellar Hypoplasia, Type 15 Pontocerebellar Hypoplasia, Type 1e
Pontocerebellar Hypoplasia, Type 1f Pontocerebellar Hypoplasia, Type 16
Pontocerebellar Hypoplasia, Type 17

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

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 2e 33.5 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 SEPSECS
2 pontocerebellar hypoplasia, type 6 33.4 TSEN54 TSEN34 TSEN2 RARS2
3 pontocerebellar hypoplasia, type 4 33.4 VPS53 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
4 pontocerebellar hypoplasia, type 3 33.4 TSEN15 TBC1D23 CLP1
5 pontocerebellar hypoplasia, type 1e 33.4 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
6 pontocerebellar hypoplasia, type 2a 33.3 TSEN54 TSEN34 TSEN2
7 pontocerebellar hypoplasia, type 11 33.3 VPS53 TSEN54 TOE1 TBC1D23 CLP1 AMPD2
8 pontocerebellar hypoplasia, type 7 33.2 TOE1 MINPP1
9 pontocerebellar hypoplasia, type 10 33.2 TSEN15 CLP1
10 pontocerebellar hypoplasia, type 12 33.2 TSEN54 CLP1 AMPD2
11 pontocerebellar hypoplasia, type 1b 33.2 VRK1 EXOSC9 EXOSC3 EXOSC1
12 pontocerebellar hypoplasia, type 2d 33.2 VPS53 TSEN54 SEPSECS RARS2 EXOSC3 CLP1
13 pontocerebellar hypoplasia, type 15 33.2 TSEN54 CLP1 CDC40
14 pontocerebellar hypoplasia, type 2f 33.1 VPS53 TSEN54 TSEN34 TSEN2 TSEN15
15 pontocerebellar hypoplasia, type 1c 33.1 TSEN54 EXOSC9 EXOSC3 EXOSC1
16 pontocerebellar hypoplasia, type 16 33.1 TSEN54 MINPP1
17 pontocerebellar hypoplasia, type 1d 33.0 TSEN54 TSEN34 TSEN15 TOE1 TBC1D23 SLC25A46
18 non-syndromic pontocerebellar hypoplasia 32.3 VRK1 VPS53 TSEN54 TSEN2 TBC1D23 SEPSECS
19 syndromic x-linked intellectual disability najm type 32.1 TSEN54 EXOSC3
20 microcephaly 31.7 VRK1 VPS53 TSEN54 TSEN34 TSEN2 TSEN15
21 cerebral atrophy 31.1 VPS53 EXOSC9
22 peho syndrome 30.7 TSEN54 TSEN34 RARS2
23 anterior horn cell disease 30.7 TSEN54 EXOSC3
24 pontocerebellar hypoplasia, type 8 11.8
25 pontocerebellar hypoplasia, type 9 11.8
26 pontocerebellar hypoplasia, type 5 11.8
27 pontocerebellar hypoplasia, type 1a 11.8
28 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 11.8
29 pontocerebellar hypoplasia, type 2b 11.7
30 pontocerebellar hypoplasia, type 2c 11.7
31 pontocerebellar hypoplasia, type 14 11.7
32 pontocerebellar hypoplasia, type 1f 11.7
33 pontocerebellar hypoplasia, type 13 11.7
34 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia 11.6
35 cortical dysplasia, complex, with other brain malformations 1 11.5
36 paroxysmal cold hemoglobinuria 11.5
37 pontocerebellar hypoplasia, type 17 11.5
38 exosc3 pontocerebellar hypoplasia 11.3
39 tsen54 pontocerebellar hypoplasia 11.2
40 early-onset calcifying leukoencephalopathy-skeletal dysplasia 11.0
41 blood group, globoside system 11.0
42 autoimmune hemolytic anemia, cold type 10.9
43 hypotonia 10.6
44 cerebellar hypoplasia 10.6
45 spinal muscular atrophy 10.5
46 muscular atrophy 10.5
47 3-methylglutaconic aciduria, type iii 10.5
48 spasticity 10.5
49 dystonia 10.5
50 respiratory failure 10.4

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 9.47 AMPD2 CDC40 CLP1 EXOSC1 EXOSC3 EXOSC9

Drugs & Therapeutics for Pontocerebellar Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Active, not recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone

Search NIH Clinical Center for Pontocerebellar Hypoplasia

Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

Anatomical Context for Pontocerebellar Hypoplasia

Organs/tissues related to Pontocerebellar Hypoplasia:

MalaCards : Pons, Cerebellum, Brain, Spinal Cord, Bone Marrow, Eye, Testes

Publications for Pontocerebellar Hypoplasia

Articles related to Pontocerebellar Hypoplasia:

(show top 50) (show all 363)
# Title Authors PMID Year
1
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. 62 5
34085948 2022
2
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. 62 5
34717047 2022
3
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. 62 5
33824466 2021
4
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. 62 5
33220177 2021
5
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 62 5
29709707 2018
6
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 62 5
29881806 2018
7
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 62 5
28823707 2017
8
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? 62 5
27570394 2016
9
Brain morphometry in Pontocerebellar Hypoplasia type 2. 62 5
27430971 2016
10
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. 62 5
26888482 2016
11
RARS2 mutations in a sibship with infantile spasms. 62 5
27061686 2016
12
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. 62 5
26970947 2016
13
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. 62 5
26083569 2015
14
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. 62 5
25809939 2015
15
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. 62 5
26701950 2015
16
Natural course of pontocerebellar hypoplasia type 2A. 62 5
24886362 2014
17
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. 62 5
23307886 2014
18
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 62 5
23975261 2013
19
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. 62 5
23177318 2013
20
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. 62 5
22569581 2013
21
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. 62 5
22086604 2012
22
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. 62 5
21468723 2011
23
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 62 5
20952379 2011
24
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. 62 5
20956791 2010
25
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? 62 5
20803644 2010
26
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. 62 5
19459882 2009
27
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 62 5
18711368 2008
28
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. 5
33972171 2021
29
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants. 5
33926074 2021
30
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. 5
33798445 2021
31
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. 5
33600046 2021
32
Early Identification of DMD in the Setting of West Syndrome. 5
34869784 2021
33
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. 5
32860008 2021
34
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. 5
31980526 2020
35
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. 5
31589614 2019
36
Epileptic phenotypes in children with early-onset mitochondrial diseases. 5
31102535 2019
37
Reanalysis of Clinical Exome Sequencing Data. 5
31216405 2019
38
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. 5
30100179 2018
39
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism. 5
27473727 2016
40
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 5
26795593 2016
41
Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase. 5
27576344 2016
42
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. 5
26968897 2016
43
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 5
27290639 2016
44
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing. 5
27175728 2016
45
The Israeli national population program of genetic carrier screening for reproductive purposes. 5
25880436 2016
46
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 5
26539891 2015
47
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
48
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). 5
24577744 2014
49
Status quo of annotation of human disease variants. 5
24305467 2013
50
The population genetics of the Jewish people. 5
23052947 2013

Variations for Pontocerebellar Hypoplasia

ClinVar genetic disease variations for Pontocerebellar Hypoplasia:

5 (show top 50) (show all 273)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEPSECS NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) SNV Pathogenic
18401 rs267607035 GRCh37: 4:25153671-25153671
GRCh38: 4:25152049-25152049
2 TBC1D23 NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs) MICROSAT Pathogenic
397553 GRCh37: 3:100029306-100029307
GRCh38: 3:100310462-100310463
3 TBC1D23 NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) INDEL Pathogenic
397554 rs1553730885 GRCh37: 3:100029359-100029359
GRCh38: 3:100310515-100310515
4 TBC1D23 NM_001199198.3(TBC1D23):c.1687+2T>G SNV Pathogenic
397555 GRCh37: 3:100035033-100035033
GRCh38: 3:100316189-100316189
5 RARS2 NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) SNV Pathogenic
632596 rs1258569046 GRCh37: 6:88239290-88239290
GRCh38: 6:87529572-87529572
6 RARS2 NM_020320.5(RARS2):c.3G>A (p.Met1Ile) SNV Pathogenic
1070705 GRCh37: 6:88299673-88299673
GRCh38: 6:87589955-87589955
7 VPS53 NM_001128159.3(VPS53):c.1556+5G>A SNV Pathogenic
139445 rs587777466 GRCh37: 17:465738-465738
GRCh38: 17:562498-562498
8 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic
2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
9 MINPP1 NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs) MICROSAT Pathogenic
1300179 GRCh37: 10:89280884-89280885
GRCh38: 10:87521127-87521128
10 RARS2 NM_020320.5(RARS2):c.472_474del (p.Lys158del) DEL Likely Pathogenic
215072 rs757743894 GRCh37: 6:88255395-88255397
GRCh38: 6:87545677-87545679
11 RARS2 NM_020320.5(RARS2):c.1406G>A (p.Arg469His) SNV Likely Pathogenic
618855 rs759331139 GRCh37: 6:88228357-88228357
GRCh38: 6:87518639-87518639
12 EXOSC3 NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) SNV Likely Pathogenic
129024 rs374550999 GRCh37: 9:37784804-37784804
GRCh38: 9:37784807-37784807
13 EXOSC3 NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter) SNV Likely Pathogenic
1723242 GRCh37: 9:37782053-37782053
GRCh38: 9:37782056-37782056
14 VPS53 NM_001128159.3(VPS53):c.1787+1G>A SNV Likely Pathogenic
1723295 GRCh37: 17:456619-456619
GRCh38: 17:553379-553379
15 AMPD2 NM_001368809.2(AMPD2):c.646del (p.Leu216fs) DEL Likely Pathogenic
1723362 GRCh37: 1:110169461-110169461
GRCh38: 1:109626839-109626839
16 TSEN2 NM_025265.4(TSEN2):c.1099+1G>A SNV Likely Pathogenic
1428757 GRCh37: 3:12560697-12560697
GRCh38: 3:12519198-12519198
17 VPS53 NM_001128159.3(VPS53):c.594del (p.Gln199fs) DEL Likely Pathogenic
1722367 GRCh37: 17:556545-556545
GRCh38: 17:653305-653305
18 RARS2 NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) SNV Likely Pathogenic
215064 rs34647222 GRCh37: 6:88231191-88231191
GRCh38: 6:87521473-87521473
19 RARS2 NM_020320.5(RARS2):c.2T>G (p.Met1Arg) SNV Likely Pathogenic
872611 rs199862050 GRCh37: 6:88299674-88299674
GRCh38: 6:87589956-87589956
20 PPIL1 NM_016059.5(PPIL1):c.280+1G>A SNV Likely Pathogenic
1065403 GRCh37: 6:36824361-36824361
GRCh38: 6:36856585-36856585
21 RARS2 NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) SNV Likely Pathogenic
402195 rs775295739 GRCh37: 6:88228436-88228436
GRCh38: 6:87518718-87518718
22 RARS2 NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) SNV Likely Pathogenic
215055 rs772887102 GRCh37: 6:88258341-88258341
GRCh38: 6:87548623-87548623
23 TSEN2 NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) SNV Likely Pathogenic
2125 rs113994149 GRCh37: 3:12558126-12558126
GRCh38: 3:12516627-12516627
24 VPS53 NM_001128159.3(VPS53):c.1312_1313+2del DEL Likely Pathogenic
554119 rs768997239 GRCh37: 17:489508-489511
GRCh38: 17:586268-586271
25 TSEN2 NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) SNV Likely Pathogenic
1334773 GRCh37: 3:12574176-12574176
GRCh38: 3:12532677-12532677
26 PPIL1 NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) SNV Likely Pathogenic
929944 rs1774516234 GRCh37: 6:36839572-36839572
GRCh38: 6:36871796-36871796
27 PPIL1 NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) SNV Likely Pathogenic
930026 rs553128312 GRCh37: 6:36823711-36823711
GRCh38: 6:36855935-36855935
28 PPIL1 NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) SNV Likely Pathogenic
1065399 GRCh37: 6:36823795-36823795
GRCh38: 6:36856019-36856019
29 PPIL1 NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) SNV Likely Pathogenic
1065400 GRCh37: 6:36823771-36823771
GRCh38: 6:36855995-36855995
30 VPS53 NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter) SNV Likely Pathogenic
1696170 GRCh37: 17:530519-530519
GRCh38: 17:627279-627279
31 TSEN54 NM_207346.3(TSEN54):c.1335del (p.Leu446fs) DEL Likely Pathogenic
160129 rs587784476 GRCh37: 17:73519765-73519765
GRCh38: 17:75523684-75523684
32 VPS53 NC_000017.10:g.(?_411907)_(618097_?)del DEL Likely Pathogenic
1698617 GRCh37: 17:411907-618097
GRCh38:
33 EXOSC3 NM_016042.4(EXOSC3):c.624_626+1del DEL Likely Pathogenic
1329042 GRCh37: 9:37781982-37781985
GRCh38: 9:37781985-37781988
34 TSEN54 NM_207346.3(TSEN54):c.1535del (p.Phe512fs) DEL Likely Pathogenic
1329073 GRCh37: 17:73520446-73520446
GRCh38: 17:75524365-75524365
35 VRK1 NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del DEL Likely Pathogenic
1339714 GRCh37: 14:97313682-97326893
GRCh38:
36 RARS2 NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs) DEL Likely Pathogenic
1343696 GRCh37: 6:88224694-88224697
GRCh38: 6:87514976-87514979
37 HEATR5B NM_019024.3(HEATR5B):c.5051-1G>A SNV Likely Pathogenic
992892 rs1667163007 GRCh37: 2:37229716-37229716
GRCh38: 2:37002573-37002573
38 HEATR5B NM_019024.3(HEATR5B):c.5050+4A>G SNV Likely Pathogenic
992893 rs1667224478 GRCh37: 2:37230681-37230681
GRCh38: 2:37003538-37003538
39 CDC40 NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) SNV Likely Pathogenic
1065404 GRCh37: 6:110550122-110550122
GRCh38: 6:110228919-110228919
40 PPIL1 NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) SNV Likely Pathogenic
1344820 GRCh37: 6:36824409-36824409
GRCh38: 6:36856633-36856633
41 PPIL1 NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) SNV Likely Pathogenic
1344821 GRCh37: 6:36823698-36823698
GRCh38: 6:36855922-36855922
42 PPIL1 NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) DUP Likely Pathogenic
1344822 GRCh37: 6:36823771-36823772
GRCh38: 6:36855995-36855996
43 PPIL1 NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) SNV Likely Pathogenic
1344823 GRCh37: 6:36823765-36823765
GRCh38: 6:36855989-36855989
44 PPIL1 NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) SNV Likely Pathogenic
1344824 GRCh37: 6:36824397-36824397
GRCh38: 6:36856621-36856621
45 TSEN54 NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) SNV Uncertain Significance
160124 rs200434678 GRCh37: 17:73518276-73518276
GRCh38: 17:75522195-75522195
46 TSEN2 NM_025265.4(TSEN2):c.-382A>C SNV Uncertain Significance
343052 rs886057904 GRCh37: 3:12526015-12526015
GRCh38: 3:12484516-12484516
47 TSEN2 NM_025265.4(TSEN2):c.-293A>G SNV Uncertain Significance
901985 rs1486288895 GRCh37: 3:12526104-12526104
GRCh38: 3:12484605-12484605
48 TSEN2 NM_025265.4(TSEN2):c.-224G>C SNV Uncertain Significance
901986 rs1175377888 GRCh37: 3:12526173-12526173
GRCh38: 3:12484674-12484674
49 TSEN2 NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) SNV Uncertain Significance
902059 rs760813133 GRCh37: 3:12545152-12545152
GRCh38: 3:12503653-12503653
50 TSEN2 NM_025265.4(TSEN2):c.*430G>A SNV Uncertain Significance
902115 rs145164317 GRCh37: 3:12574650-12574650
GRCh38: 3:12533151-12533151

Expression for Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for Pontocerebellar Hypoplasia

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 nucleolus GO:0005730 10.32 VRK1 TSEN54 TSEN34 TSEN2 TSEN15 TOE1
2 exosome (RNase complex) GO:0000178 9.8 EXOSC9 EXOSC3 EXOSC1
3 nuclear exosome (RNase complex) GO:0000176 9.73 EXOSC1 EXOSC3 EXOSC9
4 cytoplasmic exosome (RNase complex) GO:0000177 9.63 EXOSC9 EXOSC3 EXOSC1
5 nucleolar exosome (RNase complex) GO:0101019 9.43 EXOSC9 EXOSC3 EXOSC1
6 tRNA-intron endonuclease complex GO:0000214 9.23 TSEN54 TSEN34 TSEN2 CLP1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 retrograde transport, endosome to Golgi GO:0042147 10 VPS53 TBC1D23 HEATR5B
2 mRNA processing GO:0006397 10 TSEN54 TSEN34 TSEN2 TSEN15 PPIL1 CLP1
3 RNA catabolic process GO:0006401 9.85 EXOSC9 EXOSC3 EXOSC1
4 exonucleolytic catabolism of deadenylated mRNA GO:0043928 9.81 EXOSC9 EXOSC3
5 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.8 EXOSC9 EXOSC3
6 embryonic brain development GO:1990403 9.8 CDC40 PPIL1 TBC1D23
7 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.78 EXOSC9 EXOSC3
8 U4 snRNA 3'-end processing GO:0034475 9.76 EXOSC9 EXOSC3
9 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.73 EXOSC9 EXOSC3
10 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.71 EXOSC9 EXOSC3
11 tRNA processing GO:0008033 9.55 TSEN54 TSEN34 TSEN2 TSEN15 CLP1
12 tRNA-type intron splice site recognition and cleavage GO:0000379 9.43 TSEN54 TSEN34 TSEN2
13 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.28 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 3'-5'-exoribonuclease activity GO:0000175 9.63 TOE1 EXOSC9 EXOSC3
2 endonuclease activity GO:0004519 9.43 TSEN34 TSEN2 TSEN15
3 tRNA-intron endonuclease activity GO:0000213 9.26 TSEN34 TSEN2
4 exoribonuclease activity GO:0004532 8.8 EXOSC9 EXOSC3 EXOSC1

Sources for Pontocerebellar Hypoplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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