Details of Disease | DrugMAP

General Information of Disease (ID: DISU1PSQ)

Disease Name	Pontocerebellar hypoplasia type 1
Synonyms	mental retardation, autosomal recessive 32; PCH1; MRT32; Norman disease
Definition	Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Disease Hierarchy	DISMFQKM: Developmental anomaly of metabolic origin DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISRL4MG: Bulbospinal muscular atrophy DISRICMU: Pontocerebellar hypoplasia DIS6XNI0: Hereditary motor neuron disease DISU1PSQ: Pontocerebellar hypoplasia type 1
Disease Identifiers	MONDO ID MONDO_0016396 UMLS CUI C5442006 MedGen ID 1780208 Orphanet ID 2254 SNOMED CT ID 718610008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VRK1	OTU2M1BC	Supportive	Autosomal recessive	[1]
AGTPBP1	OTR92JFR	Supportive	Autosomal recessive	[2]
EXOSC3	OTNCF906	Supportive	Autosomal recessive	[3]
EXOSC8	OT75ACNG	Supportive	Autosomal recessive	[4]
EXOSC9	OTFKB37F	Supportive	Autosomal recessive	[5]
SLC25A46	OTFEV9SV	Supportive	Autosomal recessive	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30.
2	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.
3	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.
4	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.
5	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.
6	Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147.