MCID: PNT030
MIFTS: 25

Pontocerebellar Hypoplasia, Type 8

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 8

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 8:

Name: Pontocerebellar Hypoplasia, Type 8 57 13 73
Pontocerebellar Hypoplasia Type 8 12 59 29 6
Pch8 57 59 75
Pontocerebellar Hypoplasia Due to Chmp1a Mutation 59
Hypoplasia, Pontocerebellar, Type 8 40
Pontocerebellar Hypoplasia 8 75

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 8
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
pontocerebellar hypoplasia, type 8:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 8

OMIM : 57 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 pontocerebellar hypoplasia, type 1a. An important gene associated with Pontocerebellar Hypoplasia, Type 8 is CHMP1A (Charged Multivesicular Body Protein 1A). Affiliated tissues include brain, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 8

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
poor speech
mental retardation
thin corpus callosum
truncal hypotonia
more
Skeletal Feet:
pes cavus
equinovarus
talipes valgus
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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 8:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 intellectual disability 32 HP:0001249
3 spasticity 32 HP:0001257
4 hyperreflexia 32 HP:0001347
5 dysphagia 32 occasional (7.5%) HP:0002015
6 chorea 32 HP:0002072
7 global developmental delay 32 HP:0001263
8 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
9 absent speech 32 HP:0001344
10 myopia 32 HP:0000545
11 pes cavus 32 HP:0001761
12 arthrogryposis multiplex congenita 32 occasional (7.5%) HP:0002804
13 cerebellar hypoplasia 32 HP:0001321
14 talipes equinovarus 32 HP:0001762
15 astigmatism 32 HP:0000483
16 hypoplasia of the corpus callosum 32 HP:0002079
17 postnatal microcephaly 32 HP:0005484
18 generalized hypotonia 32 HP:0001290
19 esotropia 32 HP:0000565
20 cortical visual impairment 32 occasional (7.5%) HP:0100704
21 poor speech 32 HP:0002465
22 hypermetropia 32 HP:0000540
23 hypertrichosis 32 occasional (7.5%) HP:0000998
24 muscular hypotonia of the trunk 32 HP:0008936
25 hypoplasia of the brainstem 32 HP:0002365
26 talipes valgus 32 HP:0004684

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:

41
Brain

Publications for Pontocerebellar Hypoplasia, Type 8

Variations for Pontocerebellar Hypoplasia, Type 8

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHMP1A NM_002768.4(CHMP1A): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs397515426 GRCh37 Chromosome 16, 89717994: 89717994
2 CHMP1A NM_002768.4(CHMP1A): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs397515426 GRCh38 Chromosome 16, 89651586: 89651586
3 CHMP1A NM_002768.4(CHMP1A): c.28-13G> A single nucleotide variant Pathogenic rs398122918 GRCh37 Chromosome 16, 89718067: 89718067
4 CHMP1A NM_002768.4(CHMP1A): c.28-13G> A single nucleotide variant Pathogenic rs398122918 GRCh38 Chromosome 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

GO Terms for Pontocerebellar Hypoplasia, Type 8

Sources for Pontocerebellar Hypoplasia, Type 8

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
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