Details of Disease

General Information of Disease (ID: DIS7X0VS)

Disease Name Pontocerebellar hypoplasia type 1A
Synonyms
pontocerebellar hypoplasia with anterior horn cell disease; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia, type 1A; PCH1A; Pch1; non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1; VRK1 non-syndromic pontocerebellar hypoplasia
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
Disease Hierarchy
DISU1PSQ: Pontocerebellar hypoplasia type 1
DISRICMU: Pontocerebellar hypoplasia
DIS7X0VS: Pontocerebellar hypoplasia type 1A
Disease Identifiers
MONDO ID
MONDO_0011866
MESH ID
C548069
UMLS CUI
C1843504
OMIM ID
607596
MedGen ID
335969

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VRK1 OTU2M1BC Strong Autosomal recessive [1]
TSEN54 OT7MR9LY moderate GermlineCausalMutation [3]
AGTPBP1 OTR92JFR Strong Biomarker [4]
ASXL3 OTNDJWEZ Strong Genetic Variation [5]
EXOSC8 OT75ACNG Strong GermlineCausalMutation [6]
EXOSC9 OTFKB37F Strong GermlineCausalMutation [7]
RARS2 OT3WLAD8 Strong Genetic Variation [8]
EXOSC3 OTNCF906 Definitive Autosomal recessive [9]
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⏷ Show the Full List of 8 DOT(s)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KIF26B TTQWICZ Strong Genetic Variation [2]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27.
3 TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6.
4 Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.
5 Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.Birth Defects Res. 2018 Apr 3;110(6):538-542. doi: 10.1002/bdr2.1191. Epub 2018 Jan 8.
6 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.
7 Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.
8 Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.
9 Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5.