Details of Disease

General Information of Disease (ID: DISOFRJQ)

Disease Name Pontocerebellar hypoplasia type 2A
Synonyms
pontocerebellar hypoplasia with progressive cerebral atrophy; Pch2; microcephaly pontocerebellar hypoplasia dyskinesia; PCH2A; Volendam neurodegenerative disease; pontocerebellar hypoplasia, type 2A; TSEN54 pontocerebellar hypoplasia type 2; pontocerebellar hypoplasia type 2 caused by mutation in TSEN54
Disease Hierarchy
DISXV76G: Pontocerebellar hypoplasia type 2
DISOFRJQ: Pontocerebellar hypoplasia type 2A
Disease Identifiers
MONDO ID
MONDO_0010190
MESH ID
C564738
UMLS CUI
C1848526
OMIM ID
277470
MedGen ID
376379

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 Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.