MCID: PNT033
MIFTS: 31

Pontocerebellar Hypoplasia, Type 10

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 10

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 10:

Name: Pontocerebellar Hypoplasia, Type 10 57 29 6 73
Pontocerebellar Hypoplasia Type 10 12 59 15
Pch10 57 59 75
Clp1-Related Pontocerebellar Hypoplasia 59
Hypoplasia, Pontocerebellar, Type 10 40
Pontocerebellar Hypoplasia 10 75

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 10
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pontocerebellar hypoplasia, type 10:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 10, also known as pontocerebellar hypoplasia type 10, is related to pontocerebellar hypoplasia, type 1a and 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). The drugs Salmon Calcitonin and Calcitonin gene-related peptide have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pons, and related phenotypes are high palate and nystagmus

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 10

Symptoms via clinical synopsis from OMIM:

57
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
GenitourinaryInternal GenitaliaMale:
cryptorchidism

Growth Other:
poor growth

Head And Neck Head:
microcephaly, progressive


Clinical features from OMIM:

615803

Human phenotypes related to Pontocerebellar Hypoplasia, Type 10:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 nystagmus 32 HP:0000639
3 spasticity 32 HP:0001257
4 hyperreflexia 32 HP:0001347
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 short nose 32 HP:0003196
8 absent speech 32 HP:0001344
9 cryptorchidism 32 HP:0000028
10 growth delay 32 HP:0001510
11 ventriculomegaly 32 HP:0002119
12 cerebral cortical atrophy 32 HP:0002120
13 underdeveloped nasal alae 32 HP:0000430
14 thin upper lip vermilion 32 HP:0000219
15 highly arched eyebrow 32 HP:0002553
16 long palpebral fissure 32 HP:0000637
17 proptosis 32 HP:0000520
18 long eyelashes 32 HP:0000527
19 encephalopathy 32 HP:0001298
20 hypoplasia of the corpus callosum 32 HP:0002079
21 esotropia 32 HP:0000565
22 progressive microcephaly 32 HP:0000253
23 cortical gyral simplification 32 HP:0009879
24 poor eye contact 32 HP:0000817
25 delayed myelination 32 HP:0012448

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 10:


muscle spasticity

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 10

Drugs for Pontocerebellar Hypoplasia, Type 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
2
Calcitonin gene-related peptide Investigational 83652-28-2
3 Bone Density Conservation Agents
4 calcitonin

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 29 CLP1

Anatomical Context for Pontocerebellar Hypoplasia, Type 10

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

41
Brain, Cerebellum, Pons, Eye, Bone

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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....