PONTOCEREBELLAR HYPOPLASIA, TYPE 1A

General Information (adopted from Orphanet):

Synonyms, Signs: PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE
PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY
PCH1A
PCH1
Number of Symptoms 21
OrphanetNr:
OMIM Id: 607596
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002380) Fasciculations 42 / 7739
2
 (HPO:0001347) Hyperreflexia 363 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001760) Abnormality of the foot 96 / 7739
8
 (HPO:0002803) Congenital contracture 45 / 7739
9
 (HPO:0011968) Feeding difficulties 240 / 7739
10
 (HPO:0002093) Respiratory insufficiency 410 / 7739
11
 (HPO:0010547) Muscle flaccidity 466 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (OMIM) Gliosis in the basal ganglia 1 / 7739
16
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
17
 (HPO:0006850) Hypoplasia of the ventral pons 3 / 7739
18
 (OMIM) Gliosis in the brainstem 1 / 7739
19
 (OMIM) Neuronal loss in the brainstem 1 / 7739
20
 (HPO:0200147) Neuronal loss in basal ganglia 3 / 7739
21
 (OMIM) EMG shows neurogenic changes 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum ...
Clinical Description OMIM The combination of autosomal recessive PCH and anterior horn cell disease was first described by Norman (1961) and was extensively reviewed by Chou et al. (1990) and Barth (1993).

Rudnik-Schoneborn et al. (2003) described a series ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of an affected Ashkenazi Jewish family with SMA-PCH, Renbaum et al. (2009) identified a homozygous mutation in the VRK1 gene (R358X; 602168.0001). The mutation was detected in heterozygosity in 2 ...