Details of Disease

General Information of Disease (ID: DISMRCK2)

Disease Name Pontocerebellar hypoplasia type 9
Synonyms pontocerebellar hypoplasia, type 9; non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2; PCH9; AMPD2 non-syndromic pontocerebellar hypoplasia
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISMRCK2: Pontocerebellar hypoplasia type 9
Disease Identifiers
MONDO ID
MONDO_0014351
UMLS CUI
C4014354
OMIM ID
615809
MedGen ID
862791
Orphanet ID
369920

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
AMPD2 OTBS30JU Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.