Details of Disease

General Information of Disease (ID: DISSA24T)

Disease Name Pontocerebellar hypoplasia type 10
Synonyms pontocerebellar hypoplasia, type 10; PCH10; CLP1 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1; CLP1-related pontocerebellar hypoplasia
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISSA24T: Pontocerebellar hypoplasia type 10
Disease Identifiers
MONDO ID
MONDO_0014349
UMLS CUI
C5190575
OMIM ID
615803
MedGen ID
1676575
Orphanet ID
411493
SNOMED CT ID
782720005

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
CLP1 OTPY965Y Strong Autosomal recessive [1]
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References

1 Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.