PCH8
MCID: PNT030
MIFTS: 44

Pontocerebellar Hypoplasia, Type 8 (PCH8)

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 8

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 8:

Name: Pontocerebellar Hypoplasia, Type 8 56 13 71
Pontocerebellar Hypoplasia Type 8 12 58 29 6 15
Pch8 56 58 73
Pontocerebellar Hypoplasia Due to Chmp1a Mutation 58
Hypoplasia, Pontocerebellar, Type 8 39
Pontocerebellar Hypoplasia 8 73

Characteristics:

Orphanet epidemiological data:

58
pontocerebellar hypoplasia type 8
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
pontocerebellar hypoplasia, type 8:
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 8

OMIM : 56 Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (614961)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 8, also known as pontocerebellar hypoplasia type 8, is related to isolated elevated serum creatine phosphokinase levels and creatine phosphokinase, elevated serum. An important gene associated with Pontocerebellar Hypoplasia, Type 8 is CHMP1A (Charged Multivesicular Body Protein 1A), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include brain, eye and skin, and related phenotypes are nystagmus and dysphagia

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has material basis in autosomal recessive inheritance of mutation in the CHMP1A gene.

UniProtKB/Swiss-Prot : 73 Pontocerebellar hypoplasia 8: An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.

Related Diseases for Pontocerebellar Hypoplasia, Type 8

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
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 isolated elevated serum creatine phosphokinase levels 10.1 LAMA2 CAV3
2 creatine phosphokinase, elevated serum 10.1 LAMA2 CAV3
3 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 LAMA2 CAV3
4 pontocerebellar hypoplasia 9.9 VRK1 VLDLR LAMA2 CHMP1A
5 noonan syndrome and noonan-related syndrome 9.9 RAF1 BRAF
6 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 LAMA2 CAV3
7 rosai-dorfman disease 9.8 MAP2K1 BRAF
8 lentigines 9.8 RAF1 BRAF
9 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 LAMA2 CAV3
10 lipodystrophy, congenital generalized, type 4 9.6 CAV3 CAV1
11 pulmonic stenosis 9.5 RAF1 MAP2K1 BRAF
12 rasopathy 9.5 RAF1 MAP2K1 BRAF
13 cardiofaciocutaneous syndrome 1 9.5 RAF1 MAP2K1 BRAF
14 skin squamous cell carcinoma 9.5 RAF1 MAP2K1 BRAF
15 leopard syndrome 9.5 RAF1 MAP2K1 BRAF
16 malignant hyperthermia 9.4 LAMA2 CAV3 CAV1
17 hypertrophic cardiomyopathy 9.2 RAF1 MAP2K1 CAV3 BRAF
18 pontocerebellar hypoplasia, type 1a 9.0 VRK2 VRK1 VLDLR OPHN1 LAMA2 LAMA1

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 8:



Diseases related to Pontocerebellar Hypoplasia, Type 8

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 8

Human phenotypes related to Pontocerebellar Hypoplasia, Type 8:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 dysphagia 31 occasional (7.5%) HP:0002015
3 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
4 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
5 hypertrichosis 31 occasional (7.5%) HP:0000998
6 cerebral visual impairment 31 occasional (7.5%) HP:0100704
7 intellectual disability 31 HP:0001249
8 spasticity 31 HP:0001257
9 hyperreflexia 31 HP:0001347
10 chorea 31 HP:0002072
11 global developmental delay 31 HP:0001263
12 hypoplasia of the brainstem 31 HP:0002365
13 generalized hypotonia 31 HP:0001290
14 absent speech 31 HP:0001344
15 myopia 31 HP:0000545
16 pes cavus 31 HP:0001761
17 talipes equinovarus 31 HP:0001762
18 cerebellar hypoplasia 31 HP:0001321
19 poor speech 31 HP:0002465
20 hypoplasia of the corpus callosum 31 HP:0002079
21 astigmatism 31 HP:0000483
22 postnatal microcephaly 31 HP:0005484
23 esotropia 31 HP:0000565
24 muscular hypotonia of the trunk 31 HP:0008936
25 hypermetropia 31 HP:0000540
26 talipes valgus 31 HP:0004684

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
poor speech
mental retardation
thin corpus callosum
truncal hypotonia
more
Skeletal Feet:
pes cavus
talipes valgus
equinovarus
claw feet

Growth Other:
poor postnatal growth

Abdomen Gastrointestinal:
gastroesophageal reflux (rare)
swallowing difficulties (rare)

Head And Neck Head:
microcephaly, postnatal (-2 to 4.4 sd)

Head And Neck Eyes:
strabismus
myopia
astigmatism
esotropia
hyperopia
more
Muscle Soft Tissue:
hypotonia

Skeletal:
joint contractures (in some patients)
arthrogryposis (in some patients)

Skin Nails Hair Hair:
hypertrichosis (rare)

Head And Neck Face:
dysmorphic features (in some patients)

Clinical features from OMIM:

614961

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 8 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 BRAF RAF1 VRK1

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 BRAF CAV1 CAV3 DDX3X LAMA1 LAMA2
2 cardiovascular system MP:0005385 10.22 ARHGAP42 BRAF CAV1 CAV3 DDX3X LAMA1
3 growth/size/body region MP:0005378 10.14 BRAF CAV1 DDX3X LAMA1 LAMA2 LDLR
4 mortality/aging MP:0010768 10.1 BRAF CAV1 DDX3X LAMA1 LAMA2 LDLR
5 endocrine/exocrine gland MP:0005379 10.03 BRAF CAV1 LAMA2 LDLR MAP2K1 RAF1
6 integument MP:0010771 9.97 BRAF CAV1 LDLR MAP2K1 OPHN1 RAF1
7 muscle MP:0005369 9.91 ARHGAP42 BRAF CAV1 CAV3 DDX3X LAMA2
8 nervous system MP:0003631 9.9 BRAF CAV1 DDX3X LAMA1 LAMA2 LDLR
9 normal MP:0002873 9.56 BRAF DDX3X LAMA1 LDLR MAP2K1 RAF1
10 reproductive system MP:0005389 9.28 BRAF CAV1 DDX3X LAMA1 LAMA2 MAP2K1

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 8

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 8

Genetic Tests for Pontocerebellar Hypoplasia, Type 8

Genetic tests related to Pontocerebellar Hypoplasia, Type 8:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 8 29 CHMP1A

Anatomical Context for Pontocerebellar Hypoplasia, Type 8

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 8:

40
Brain, Eye, Skin

Publications for Pontocerebellar Hypoplasia, Type 8

Articles related to Pontocerebellar Hypoplasia, Type 8:

# Title Authors PMID Year
1
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. 56 6
23023333 2012

Variations for Pontocerebellar Hypoplasia, Type 8

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 8:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHMP1A NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)SNV Pathogenic 39837 rs397515426 16:89717994-89717994 16:89651586-89651586
2 CHMP1A NM_002768.5(CHMP1A):c.28-13G>ASNV Pathogenic 39838 rs398122918 16:89718067-89718067 16:89651659-89651659

Expression for Pontocerebellar Hypoplasia, Type 8

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 8.

Pathways for Pontocerebellar Hypoplasia, Type 8

Pathways related to Pontocerebellar Hypoplasia, Type 8 according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 RBL1 RAF1 MAP2K1 LAMA2 LAMA1
2 12.73 RAF1 MAP2K1 LAMA2 LAMA1 BRAF
3
Show member pathways
12.67 RAF1 MAP2K1 LAMA2 LAMA1 BRAF
4
Show member pathways
12.48 RAF1 MAP2K1 LAMA1 CAV1
5
Show member pathways
12.4 RAF1 MAP2K1 CAV1 BRAF
6
Show member pathways
12.26 RAF1 MAP2K1 CAV1 BRAF
7 11.99 RAF1 MAP2K1 CAV1 BRAF
8
Show member pathways
11.99 RAF1 MAP2K1 LDLR BRAF
9 11.95 LDLR CHMP1B CHMP1A CAV3 CAV1
10
Show member pathways
11.94 RAF1 MAP2K1 BRAF
11
Show member pathways
11.93 RAF1 MAP2K1 LAMA2 LAMA1 CAV3 CAV1
12 11.9 RAF1 MAP2K1 BRAF
13 11.88 RAF1 MAP2K1 BRAF
14 11.87 RAF1 MAP2K1 BRAF
15 11.85 RAF1 MAP2K1 BRAF
16 11.84 RAF1 MAP2K1 BRAF
17 11.82 RAF1 MAP2K1 BRAF
18 11.79 RAF1 MAP2K1 BRAF
19 11.79 RBL1 RAF1 MAP2K1 CAV1
20 11.77 RAF1 MAP2K1 BRAF
21
Show member pathways
11.71 RAF1 MAP2K1 BRAF
22 11.66 RAF1 MAP2K1 CAV3 CAV1 BRAF
23 11.64 RAF1 MAP2K1 BRAF
24 11.62 RAF1 MAP2K1 CAV1
25 11.57 RAF1 MAP2K1 BRAF
26
Show member pathways
11.54 RAF1 MAP2K1 BRAF
27
Show member pathways
11.5 RAF1 MAP2K1 BRAF
28 11.48 RAF1 MAP2K1 BRAF
29 11.46 RAF1 MAP2K1 BRAF
30 11.4 RAF1 MAP2K1 BRAF
31 11.4 RAF1 MAP2K1 BRAF
32 11.27 RAF1 MAP2K1 BRAF
33
Show member pathways
11.17 RAF1 MAP2K1 BRAF
34 11.16 RAF1 MAP2K1 BRAF
35
Show member pathways
10.99 RAF1 MAP2K1 BRAF
36 10.98 RAF1 MAP2K1
37 10.95 MAP2K1 BRAF
38 10.92 RAF1 MAP2K1
39 10.92 RAF1 MAP2K1

GO Terms for Pontocerebellar Hypoplasia, Type 8

Cellular components related to Pontocerebellar Hypoplasia, Type 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.63 RAF1 LDLR CHMP1B CHMP1A CAV3 CAV1
2 sarcolemma GO:0042383 9.13 LAMA2 CAV3 CAV1
3 ESCRT III complex GO:0000815 8.62 CHMP1B CHMP1A

Biological processes related to Pontocerebellar Hypoplasia, Type 8 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.03 RBL1 RAF1 DDX3X CAV3 CAV1 BRAF
2 phosphorylation GO:0016310 10.01 VRK2 VRK1 RAF1 MAP2K1 BRAF
3 viral process GO:0016032 9.83 VRK2 RBL1 LDLR DDX3X CAV1
4 endocytosis GO:0006897 9.8 VLDLR OPHN1 LDLR CAV3
5 positive regulation of gene expression GO:0010628 9.77 MAP2K1 LDLR DDX3X CAV1 BRAF
6 cholesterol homeostasis GO:0042632 9.75 LDLR CAV3 CAV1
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.72 RAF1 CAV1 BRAF
8 axon guidance GO:0007411 9.71 VLDLR OPHN1 LAMA2 LAMA1
9 viral budding via host ESCRT complex GO:0039702 9.63 CHMP1B CHMP1A
10 protein phosphorylation GO:0006468 9.63 VRK2 VRK1 RAF1 MAP2K1 LAMA1 BRAF
11 regulation of embryonic development GO:0045995 9.62 LAMA2 LAMA1
12 regulation of centrosome duplication GO:0010824 9.62 CHMP1B CHMP1A
13 midbody abscission GO:0061952 9.61 CHMP1B CHMP1A
14 vacuolar transport GO:0007034 9.6 CHMP1B CHMP1A
15 establishment of epithelial cell apical/basal polarity GO:0045198 9.59 OPHN1 LAMA1
16 endosome transport via multivesicular body sorting pathway GO:0032509 9.58 CHMP1B CHMP1A
17 negative regulation of nitric-oxide synthase activity GO:0051001 9.57 CAV3 CAV1
18 negative regulation of potassium ion transmembrane transport GO:1901380 9.54 CAV3 CAV1
19 ESCRT III complex disassembly GO:1904903 9.52 CHMP1B CHMP1A
20 late endosome to vacuole transport GO:0045324 9.51 CHMP1B CHMP1A
21 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.48 CAV3 CAV1
22 regulation of axon regeneration GO:0048679 9.46 MAP2K1 BRAF
23 thymus development GO:0048538 9.43 RAF1 MAP2K1 BRAF
24 caveola assembly GO:0070836 9.32 CAV3 CAV1
25 thyroid gland development GO:0030878 9.13 RAF1 MAP2K1 BRAF
26 face development GO:0060324 8.8 RAF1 MAP2K1 BRAF

Molecular functions related to Pontocerebellar Hypoplasia, Type 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.33 VRK2 VRK1 VLDLR RBL1 RAF1 MAP2K1
2 identical protein binding GO:0042802 9.88 RAF1 LDLR CHMP1B CHMP1A CAV1 BRAF
3 kinase activity GO:0016301 9.83 VRK2 VRK1 RAF1 MAP2K1 BRAF
4 protein kinase activity GO:0004672 9.55 VRK2 VRK1 RAF1 MAP2K1 BRAF
5 Ras GTPase binding GO:0017016 9.48 RAF1 BRAF
6 nitric-oxide synthase binding GO:0050998 9.37 CAV3 CAV1
7 protein serine/threonine kinase activity GO:0004674 9.35 VRK2 VRK1 RAF1 MAP2K1 BRAF
8 mitogen-activated protein kinase kinase binding GO:0031434 9.32 RAF1 BRAF
9 low-density lipoprotein particle receptor activity GO:0005041 9.26 VLDLR LDLR
10 very-low-density lipoprotein particle receptor activity GO:0030229 8.62 VLDLR LDLR

Sources for Pontocerebellar Hypoplasia, Type 8

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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