Details of Disease

General Information of Disease (ID: DIS9BKLQ)

Disease Name	Pontocerebellar hypoplasia type 6
Synonyms	pontocerebellar hypoplasia, type 6; encephalopathy, fatal infantile, with mitochondrial respiratory chain defects; encephalopathy fatal infantile with mitochondrial respiratory chain defects; fatal infantile encephalopathy with mitochondrial respiratory chain defects; pontocerebellar hypoplasia type 6; non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2; PCH6; RARS2 non-syndromic pontocerebellar hypoplasia
Disease Class	LD20: CNS anomalies syndrome
Definition	Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
Disease Hierarchy	DISRICMU: Pontocerebellar hypoplasia DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS9BKLQ: Pontocerebellar hypoplasia type 6
ICD Code	ICD-11 ICD-11: LD20.01 ICD-10 ICD-10: Q04.3 Expand ICD-11 'LD20.01 Expand ICD-10 'Q04.3
Disease Identifiers	MONDO ID MONDO_0012683 MESH ID C548074 UMLS CUI C1969084 OMIM ID 611523 MedGen ID 370596 Orphanet ID 166073 SNOMED CT ID 718606005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BioE-743	DM7PT8R	Phase 2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RARS1	OTHPZ6JN	Limited	Genetic Variation	[2]
DARS1	OT0WGC2T	moderate	Altered Expression	[2]
DARS2	OTVPFTBG	moderate	Altered Expression	[2]
RARS2	OT3WLAD8	Definitive	Autosomal recessive	[3]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.J Biol Chem. 2018 Aug 31;293(35):13604-13615. doi: 10.1074/jbc.RA118.003400. Epub 2018 Jul 13.
3	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.