Pontocerebellar hypoplasia type 8

General Information (adopted from Orphanet):

Synonyms, Signs: PCH8
Pontocerebellar hypoplasia due to CHMP1A mutation
Number of Symptoms 48
OrphanetNr: 324569
OMIM Id: 614961
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic pontocerebellar hypoplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0000540) Hypermetropia 99 / 7739
3
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
4
 (HPO:0000483) Astigmatism 67 / 7739
5
 (HPO:0100704) Cortical visual impairment rare [HPO:skoehler] 28 / 7739
6
 (HPO:0000565) Esotropia 58 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0000545) Myopia 286 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001347) Hyperreflexia 363 / 7739
11
 (HPO:0002072) Chorea 53 / 7739
12
 (HPO:0001344) Absent speech 57 / 7739
13
 (HPO:0002465) Poor speech 31 / 7739
14
 (HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
15
 (HPO:0001257) Spasticity 251 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0001762) Talipes equinovarus 309 / 7739
18
 (HPO:0009473) Joint contracture of the hand 84 / 7739
19
 (HPO:0005684) Distal arthrogryposis 31 / 7739
20
 (HPO:0001371) Flexion contracture 220 / 7739
21
 (HPO:0002804) Arthrogryposis multiplex congenita rare [HPO:skoehler] 93 / 7739
22
 (HPO:0001761) Pes cavus 225 / 7739
23
 (HPO:0004684) Talipes valgus 28 / 7739
24
 (HPO:0002020) Gastroesophageal reflux rare [HPO:skoehler] 101 / 7739
25
 (HPO:0002230) Generalized hirsutism 32 / 7739
26
 (HPO:0000998) Hypertrichosis rare [HPO:skoehler] 52 / 7739
27
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
28
 (HPO:0001007) Hirsutism 91 / 7739
29
 (HPO:0010547) Muscle flaccidity 466 / 7739
30
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
31
 (HPO:0001324) Muscle weakness 859 / 7739
32
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
33
 (HPO:0001252) Muscular hypotonia 990 / 7739
34
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
35
 (OMIM) Relative preservation of the cerebellar folia 1 / 7739
36
 (OMIM) Spasticity, usually of the lower limbs 1 / 7739
37
 (OMIM) Reduced cerebral white matter 1 / 7739
38
 (OMIM) Brain MRI shows cerebellar hypoplasia 1 / 7739
39
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
40
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
41
 (OMIM) Lack of independent walking (in some patients) 1 / 7739
42
 (OMIM) Claw feet 1 / 7739
43
 (OMIM) Poor visual tracking (in some patients) 1 / 7739
44
 (OMIM) Lack of speech 17 / 7739
45
 (OMIM) Poor growth, postnatal 8 / 7739
46
 (OMIM) Delayed psychomotor development, severe 14 / 7739
47
 (OMIM) Involuntary repetitive movements 1 / 7739
48
 (OMIM) Dysmorphic features 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Mochida et al. (2012) reported 6 patients from 3 unrelated families with pontocerebellar hypoplasia. One consanguineous family was of Peruvian origin and the 2 other families were from Puerto Rico. The patients showed early developmental delay in motor, ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing in families with pontocerebellar hypoplasia, Mochida et al. (2012) identified 2 different homozygous mutations in the CHMP1A gene (164010.0001 and 164010.0002). Patient-derived cell lines showed severely impaired doubling times compared ...