PONTOCEREBELLAR HYPOPLASIA, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: VOLENDAM NEURODEGENERATIVE DISEASE
PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY
PCH2
PCH2A
Number of Symptoms 19
OrphanetNr:
OMIM Id: 277470
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:0000253) Progressive microcephaly 37 / 7739
2
(HPO:0007772) Impaired smooth pursuit 21 / 7739
3
(HPO:0001257) Spasticity 251 / 7739
4
(HPO:0002179) Opisthotonus 35 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0007308) Extrapyramidal dyskinesia 5 / 7739
7
(HPO:0011968) Feeding difficulties 240 / 7739
8
(HPO:0002033) Poor suck 37 / 7739
9
(OMIM) Cerebellar hypoplasia, particularly of the hemispheres 1 / 7739
10
(OMIM) Inability to sit or control head 1 / 7739
11
(OMIM) Developmental delay, profound 6 / 7739
12
(OMIM) Pontine hypoplasia 8 / 7739
13
(OMIM) Diffuse cerebral gliosis 1 / 7739
14
(OMIM) Hypertonia at birth 2 / 7739
15
(OMIM) Restlessness at birth 1 / 7739
16
(OMIM) Absence of transverse pontine fibers 1 / 7739
17
(OMIM) Loss of Purkinje cells 3 / 7739
18
(OMIM) Cerebellar cortex shows normal layers 2 / 7739
19
(HPO:0002518) Abnormality of the periventricular white matter 24 / 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. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord ...
Clinical Description OMIM In 2 males and 5 females in 5 sibships related as cousins, all with parents originating from the island community of Volendam, north of Amsterdam in the Netherlands, Barth et al. (1990) described a lethal progressive neurologic disorder ...
Molecular genetics OMIM In 42 of 47 patients with PCH, Budde et al. (2008) identified a homozygous ala307-to-ser substitution in the TSEN54 gene (A307S; 608755.0001). The A307S mutation was likely due to a single founder mutation event that occurred at least ...