Details of Disease | DrugMAP

General Information of Disease (ID: DISR2JYJ)

Disease Name	Pontocerebellar hypoplasia type 3
Synonyms	pontocerebellar hypoplasia, type 3; Pch with optic atrophy; clam; cerebellar atrophy with progressive microcephaly; PCH with optic atrophy; PCLO non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO; PCH without dyskinesia; PCH3
Definition	Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Disease Hierarchy	DISRICMU: Pontocerebellar hypoplasia DISR2JYJ: Pontocerebellar hypoplasia type 3
Disease Identifiers	MONDO ID MONDO_0011948 MESH ID C548072 UMLS CUI C1842687 OMIM ID 608027 MedGen ID 334225 Orphanet ID 97249 SNOMED CT ID 718609003

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
PCLO	OTXJZZ98	Strong	Autosomal recessive	[1]
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References

1	Piccolo and bassoon maintain synaptic vesicle clustering without directly participating in vesicle exocytosis. Proc Natl Acad Sci U S A. 2010 Apr 6;107(14):6504-9. doi: 10.1073/pnas.1002307107. Epub 2010 Mar 23.