Details of Disease

General Information of Disease (ID: DISSWARN)

Disease Name Pontocerebellar hypoplasia, type 1C
Synonyms
hypomyelination with spinal muscular atrophy and cerebellar hypoplasia; PCH1C; pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8; pontocerebellar hypoplasia, type 1C; EXOSC8 pontocerebellar hypoplasia type 1
Definition Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
Disease Hierarchy
DISU1PSQ: Pontocerebellar hypoplasia type 1
DISSWARN: Pontocerebellar hypoplasia, type 1C
Disease Identifiers
MONDO ID
MONDO_0014485
UMLS CUI
C4015160
OMIM ID
616081
MedGen ID
863597

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
EXOSC8 OT75ACNG Strong Autosomal recessive [1]
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References

1 EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.