Details of Disease

General Information of Disease (ID: DISUI6L0)

• Disease Name: Pontocerebellar hypoplasia type 8
• Synonyms: pontocerebellar hypoplasia, type 8; non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A; pontocerebellar hypoplasia due to CHMP1A mutation; pontocerebellar hypoplasia type 8; CHMP1A non-syndromic pontocerebellar hypoplasia; PCH8
• Definition: A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
• Disease Hierarchy:
  DISRICMU: Pontocerebellar hypoplasia
  DISUI6L0: Pontocerebellar hypoplasia type 8
• Disease Identifiers:
  MONDO ID: MONDO_0013990
  UMLS CUI: C3554209
  OMIM ID: 614961
  MedGen ID: 767123
  Orphanet ID: 324569
  SNOMED CT ID: 718611007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHMP1A	OTVQ5UWX	Strong	Autosomal recessive	[1]

References

• [1] CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30.