Details of Disease

General Information of Disease (ID: DIS01OM1)

Disease Name Pontocerebellar hypoplasia type 4
Synonyms
pontocerebellar hypoplasia, type 4; encephalopathy fatal infantile with olivopontocerebellar hypoplasia; encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia; PCH4; olivopontocerebellar hypoplasia; fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Definition
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DIS01OM1: Pontocerebellar hypoplasia type 4
Disease Identifiers
MONDO ID
MONDO_0009166
MESH ID
C536716
UMLS CUI
C1856974
OMIM ID
225753
MedGen ID
384027
Orphanet ID
166063
SNOMED CT ID
718608006

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]
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References

1 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.