PCH10
MCID: PNT033
MIFTS: 37

Pontocerebellar Hypoplasia, Type 10 (PCH10)

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 10

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 10:

Name: Pontocerebellar Hypoplasia, Type 10 57 29 6 70
Pontocerebellar Hypoplasia Type 10 12 58 15
Pch10 57 58 72
Clp1-Related Pontocerebellar Hypoplasia 58
Hypoplasia, Pontocerebellar, Type 10 39
Pontocerebellar Hypoplasia 10 72

Characteristics:

Orphanet epidemiological data:

58
pontocerebellar hypoplasia type 10
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

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

Miscellaneous:
onset at birth
severe phenotype
founder effect in turkish families


HPO:

31
pontocerebellar hypoplasia, type 10:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pontocerebellar Hypoplasia, Type 10

OMIM® : 57 Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy (summary by Karaca et al., 2014 and Schaffer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (615803) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 10, also known as pontocerebellar hypoplasia type 10, is related to pontocerebellar hypoplasia and microcephaly, and has symptoms including muscle spasticity An important gene associated with Pontocerebellar Hypoplasia, Type 10 is CLP1 (Cleavage Factor Polyribonucleotide Kinase Subunit 1), and among its related pathways/superpathways are Viral carcinogenesis and Central carbon metabolism in cancer. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are hyperreflexia and delayed speech and language development

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has material basis in autosomal recessive inheritance of mutation in the CLP1 gene.

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 10: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH10 features include cortical dysgenesis marked by a simplified gyral pattern, cortical atrophy, mild or focal cerebellar vermian volume loss, delayed myelination, progressive microcephaly, global growth and developmental delays, severe intellectual disabilities, and seizures refractory to treatment.

Related Diseases for Pontocerebellar Hypoplasia, Type 10

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 10:



Diseases related to Pontocerebellar Hypoplasia, Type 10

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 10

Human phenotypes related to Pontocerebellar Hypoplasia, Type 10:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
4 delayed fine motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0010862
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
10 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
11 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
12 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
13 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
14 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
15 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
16 long palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000637
17 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
18 seizure 31 frequent (33%) HP:0001250
19 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
20 abnormality of brainstem morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002363
21 simplified gyral pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0009879
22 visual fixation instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0025405
23 visual impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000505
24 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
25 strabismus 58 31 very rare (1%) Very rare (<4-1%) HP:0000486
26 seizures 58 Frequent (79-30%)
27 nystagmus 31 HP:0000639
28 high palate 31 HP:0000218
29 short nose 31 HP:0003196
30 hypertonia 58 Frequent (79-30%)
31 absent speech 31 HP:0001344
32 cryptorchidism 31 HP:0000028
33 kyphoscoliosis 31 HP:0002751
34 cerebral cortical atrophy 31 HP:0002120
35 thin upper lip vermilion 31 HP:0000219
36 ventriculomegaly 31 HP:0002119
37 hypoplasia of the corpus callosum 31 HP:0002079
38 poor eye contact 31 HP:0000817
39 encephalopathy 31 HP:0001298
40 esotropia 31 HP:0000565
41 abnormality of the cerebral cortex 58 Frequent (79-30%)
42 delayed myelination 31 HP:0012448
43 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
hypertonia
encephalopathy
delayed myelination
more
Head And Neck Nose:
short nose
hypoplastic alae nasi
broad nasal root

Skeletal Spine:
kyphoscoliosis

Growth Other:
poor growth

Head And Neck Head:
microcephaly, progressive

Head And Neck Eyes:
nystagmus
strabismus
long eyelashes
poor eye contact
esotropia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
thin upper lip
high-arched palate

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy

Skeletal Pelvis:
hip abnormalities

Clinical features from OMIM®:

615803 (Updated 20-May-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 10:


muscle spasticity

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.13 CLP1 PKM TP53
2 no phenotypic analysis MP:0003012 8.8 CLP1 PKM TP53

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 10

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 10

Genetic Tests for Pontocerebellar Hypoplasia, Type 10

Genetic tests related to Pontocerebellar Hypoplasia, Type 10:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 10 29 CLP1

Anatomical Context for Pontocerebellar Hypoplasia, Type 10

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 10:

40
Eye, Brain, Cerebellum, Pons, Cortex, Breast

Publications for Pontocerebellar Hypoplasia, Type 10

Articles related to Pontocerebellar Hypoplasia, Type 10:

# Title Authors PMID Year
1
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. 61 6 57
29307788 2018
2
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. 57 6
24766809 2014
3
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. 57 6
24766810 2014
4
CLP1 links tRNA metabolism to progressive motor-neuron loss. 57
23474986 2013
5
Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2. 61
32143824 2020
6
Effect of HLA-B and HLA-DR genes on susceptibility to and severity of spondyloarthropathies in Mexican patients. 61
12117677 2002
7
Posttranscriptional control of plasmid ColIb-P9 repZ gene expression by a small RNA. 61
1690705 1990

Variations for Pontocerebellar Hypoplasia, Type 10

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLP1 NM_006831.3(CLP1):c.419G>A (p.Arg140His) SNV Pathogenic/Likely pathogenic 143934 rs587777616 GRCh37: 11:57427367-57427367
GRCh38: 11:57659895-57659895
2 CLP1 NM_006831.3(CLP1):c.178G>T (p.Gly60Cys) SNV Uncertain significance 1030159 GRCh37: 11:57427126-57427126
GRCh38: 11:57659654-57659654
3 CLP1 NM_006831.3(CLP1):c.310C>G (p.Arg104Gly) SNV Uncertain significance 1030160 GRCh37: 11:57427258-57427258
GRCh38: 11:57659786-57659786
4 CLP1 NM_006831.3(CLP1):c.422T>A (p.Leu141Ter) SNV Uncertain significance 1030161 GRCh37: 11:57427370-57427370
GRCh38: 11:57659898-57659898
5 CLP1 NM_006831.3(CLP1):c.427C>T (p.Arg143Cys) SNV Uncertain significance 1030162 GRCh37: 11:57427375-57427375
GRCh38: 11:57659903-57659903
6 CLP1 NM_006831.3(CLP1):c.159_161del (p.Lys54del) Deletion Uncertain significance 1032495 GRCh37: 11:57427105-57427107
GRCh38: 11:57659633-57659635

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 10:

72
# Symbol AA change Variation ID SNP ID
1 CLP1 p.Arg140His VAR_070952 rs587777616

Expression for Pontocerebellar Hypoplasia, Type 10

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 10.

Pathways for Pontocerebellar Hypoplasia, Type 10

Pathways related to Pontocerebellar Hypoplasia, Type 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.47 TP53 PKM
2 10.8 TP53 PKM
3 10.19 TP53 PKM

GO Terms for Pontocerebellar Hypoplasia, Type 10

Biological processes related to Pontocerebellar Hypoplasia, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 programmed cell death GO:0012501 8.62 TP53 PKM

Molecular functions related to Pontocerebellar Hypoplasia, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.8 TP53 PKM CLP1

Sources for Pontocerebellar Hypoplasia, Type 10

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
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