Pontocerebellar hypoplasia type 4

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA
PCH4
Olivopontocerebellar hypoplasia
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Number of Symptoms 27
OrphanetNr: 166063
OMIM Id: 225753
ICD-10: Q04.3
UMLs: C1856974
MeSH: C536716
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 families [Orphanet]
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0001257) Spasticity 251 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0007105) Infantile encephalopathy 5 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0011344) Severe global developmental delay 46 / 7739
7
 (HPO:0002803) Congenital contracture 45 / 7739
8
 (HPO:0001561) Polyhydramnios 191 / 7739
9
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
10
 (OMIM) Loss of Purkinje cells 3 / 7739
11
 (OMIM) Swallowing disturbances 1 / 7739
12
 (OMIM) Cerebellar cortex shows normal layers 2 / 7739
13
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
14
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
15
 (OMIM) Hypertonia at birth 2 / 7739
16
 (HPO:0001522) Death in infancy 275 / 7739
17
 (HPO:0007001) Loss of Purkinje cells in the cerebellar vermis 2 / 7739
18
 (OMIM) Little spontaneous breath 1 / 7739
19
 (HPO:0012110) Hypoplasia of the pons 16 / 7739
20
 (OMIM) Shrunken inferior olivary nuclei 1 / 7739
21
 (OMIM) Central respiratory failure 2 / 7739
22
 (OMIM) Inferior olivary nuclei show fetal pattern 1 / 7739
23
 (OMIM) Neocortical atrophy 1 / 7739
24
 (OMIM) Decreased cerebellar folia 1 / 7739
25
 (OMIM) Delayed psychomotor development, profound 3 / 7739
26
 (HPO:0002171) Gliosis 48 / 7739
27
 (OMIM) Pontine hypoplasia 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 4 (PCH4) is characterized by severe course and early lethality (Budde et al., 2008).

For a ...
Clinical Description OMIM Albrecht et al. (1993) reported what they considered to be a 'new' syndrome in 3 sibs (2 females and 1 male) with severe neonatal encephalopathy manifested clinically by microcephaly, myoclonus, and muscular hypertonia. All 3 died in infancy. ...
Molecular genetics OMIM In 3 individuals with PCH4, Budde et al. (2008) found mutations in the TSEN54 gene (608755), encoding the noncatalytic subunit of the tRNA splicing endonuclease. One patient carried an ala307-to-ser substitution (A307S) in isolation on one allele and ...