PCH10
MCID: PNT033
MIFTS: 30

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 58 30 6 74
Pontocerebellar Hypoplasia Type 10 12 60 15
Pch10 58 60 76
Clp1-Related Pontocerebellar Hypoplasia 60
Hypoplasia, Pontocerebellar, Type 10 41
Pontocerebellar Hypoplasia 10 76

Characteristics:

Orphanet epidemiological data:

60
pontocerebellar hypoplasia type 10
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
pontocerebellar hypoplasia, type 10:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 10

OMIM : 58 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)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 10, also known as pontocerebellar hypoplasia type 10, is related to pontocerebellar hypoplasia, and has symptoms including muscle spasticity An important gene associated with Pontocerebellar Hypoplasia, Type 10 is CLP1 (Cleavage And Polyadenylation Factor I Subunit 1). Affiliated tissues include brain, cerebellum and pons, 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 : 76 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.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 10

Human phenotypes related to Pontocerebellar Hypoplasia, Type 10:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 delayed gross motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0002194
4 delayed fine motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0010862
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
8 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
9 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
10 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
11 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
12 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
13 long palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000637
14 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
15 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
16 sensorimotor neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007141
17 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
18 poor head control 60 33 frequent (33%) Frequent (79-30%) HP:0002421
19 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737
20 abnormality of brainstem morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002363
21 visual fixation instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0025405
22 cortical gyral simplification 60 33 occasional (7.5%) Occasional (29-5%) HP:0009879
23 visual impairment 60 33 very rare (1%) Very rare (<4-1%) HP:0000505
24 optic atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000648
25 strabismus 60 33 very rare (1%) Very rare (<4-1%) HP:0000486
26 high palate 33 HP:0000218
27 nystagmus 33 HP:0000639
28 short nose 33 HP:0003196
29 hypertonia 60 Frequent (79-30%)
30 absent speech 33 HP:0001344
31 cryptorchidism 33 HP:0000028
32 ventriculomegaly 33 HP:0002119
33 cerebral cortical atrophy 33 HP:0002120
34 thin upper lip vermilion 33 HP:0000219
35 encephalopathy 33 HP:0001298
36 hypoplasia of the corpus callosum 33 HP:0002079
37 esotropia 33 HP:0000565
38 progressive microcephaly 33 HP:0000253
39 abnormality of the cerebral cortex 60 Frequent (79-30%)
40 poor eye contact 33 HP:0000817
41 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
long eyelashes
esotropia
poor eye contact
more
Head And Neck Nose:
short nose
hypoplastic alae nasi
broad nasal root

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

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy

Neurologic Central Nervous System:
spasticity
hyperreflexia
hypertonia
encephalopathy
delayed myelination
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Other:
poor growth

Head And Neck Head:
microcephaly, progressive

Clinical features from OMIM:

615803

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 10:


muscle spasticity

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Procalcitonin Levels in Patients With Fever and a Central Line Completed NCT01175005

Search 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 30 CLP1

Anatomical Context for Pontocerebellar Hypoplasia, Type 10

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

42
Brain, Cerebellum, Pons, Eye, Cortex

Publications for Pontocerebellar Hypoplasia, Type 10

Articles related to Pontocerebellar Hypoplasia, Type 10:

# Title Authors Year
1
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. ( 29307788 )
2018

Variations for Pontocerebellar Hypoplasia, Type 10

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

76
# Symbol AA change Variation ID SNP ID
1 CLP1 p.Arg140His VAR_070952 rs587777616

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLP1 NM_006831.2(CLP1): c.419G> A (p.Arg140His) single nucleotide variant Likely pathogenic rs587777616 GRCh38 Chromosome 11, 57659895: 57659895
2 CLP1 NM_006831.2(CLP1): c.419G> A (p.Arg140His) single nucleotide variant Likely pathogenic rs587777616 GRCh37 Chromosome 11, 57427367: 57427367

Expression for Pontocerebellar Hypoplasia, Type 10

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

Pathways for Pontocerebellar Hypoplasia, Type 10

GO Terms for Pontocerebellar Hypoplasia, Type 10

Sources for Pontocerebellar Hypoplasia, Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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