Details of Disease

General Information of Disease (ID: DISZ2FWT)

Disease Name Pontocerebellar hypoplasia type 5
Synonyms olivopontocerebellar hypoplasia fetal-onset; pontocerebellar hypoplasia, type 5; olivopontocerebellar hypoplasia, fetal-onset; fetal-onset olivopontocerebellar hypoplasia; PCH5
Definition
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISZ2FWT: Pontocerebellar hypoplasia type 5
Disease Identifiers
MONDO ID
MONDO_0012438
MESH ID
C537745
UMLS CUI
C1857762
OMIM ID
610204
MedGen ID
341845
Orphanet ID
166068
SNOMED CT ID
718607001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TSEN54 OT7MR9LY Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol. 2007 Oct;114(4):373-86. doi: 10.1007/s00401-007-0263-0. Epub 2007 Jul 20.