Details of Disease | DrugMAP

General Information of Disease (ID: DISXV76G)

Disease Name	Pontocerebellar hypoplasia type 2
Synonyms	progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy; PCH2
Definition	Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Disease Hierarchy	DISRL4MG: Bulbospinal muscular atrophy DISRICMU: Pontocerebellar hypoplasia DIS6XNI0: Hereditary motor neuron disease DISXV76G: Pontocerebellar hypoplasia type 2
Disease Identifiers	MONDO ID MONDO_0016759 MESH ID C548070 UMLS CUI C2932714 MedGen ID 420956 Orphanet ID 2524 SNOMED CT ID 715463008

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
SEPSECS	OTP0FHOV	Supportive	Autosomal recessive	[1]
TSEN15	OT14UW31	Supportive	Autosomal recessive	[2]
TSEN2	OT1UWYRI	Supportive	Autosomal recessive	[3]
TSEN34	OTH5FQHP	Supportive	Autosomal recessive	[4]
TSEN54	OT7MR9LY	Supportive	Autosomal recessive	[5]
TRIP13	OTFM3TI9	Strong	Biomarker	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. doi: 10.1016/j.ajhg.2010.09.007.
2	Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023.
3	Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3.
4	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
5	TSEN54 Pontocerebellar Hypoplasia. 2009 Sep 8 [updated 2020 May 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
6	Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?.Am J Med Genet A. 2010 Sep;152A(9):2268-76. doi: 10.1002/ajmg.a.33579.