Details of Disease | DrugMAP

General Information of Disease (ID: DISZO2HP)

Disease Name	Pontocerebellar hypoplasia type 1B
Synonyms	pontocerebellar hypoplasia, type 1B; PCH1B; non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3; EXOSC3 non-syndromic pontocerebellar hypoplasia; pontocerebellar hypoplasia type 1B
Definition	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
Disease Hierarchy	DISU1PSQ: Pontocerebellar hypoplasia type 1 DISRICMU: Pontocerebellar hypoplasia DISZO2HP: Pontocerebellar hypoplasia type 1B
Disease Identifiers	MONDO ID MONDO_0013853 UMLS CUI C3553449 OMIM ID 614678 MedGen ID 766363

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXOSC8	OT75ACNG	Disputed	Biomarker	[1]
EXOSC3	OTNCF906	Definitive	Autosomal recessive	[2]
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References

1	The RNA Exosome and Human Disease.Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1.
2	Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.