Details of Disease

General Information of Disease (ID: DISXFITF)

• Disease Name: Pontocerebellar hypoplasia type 7
• Synonyms: pontocerebellar hypoplasia, type 7; PCH7; pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; TOE1 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1
• Definition: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
• Disease Hierarchy:
  DISRICMU: Pontocerebellar hypoplasia
  DISXFITF: Pontocerebellar hypoplasia type 7
• Disease Identifiers:
  MONDO ID: MONDO_0013993
  UMLS CUI: C3554226
  OMIM ID: 614969
  MedGen ID: 767140
  Orphanet ID: 284339
  SNOMED CT ID: 718605009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MINPP1	DE5Q1SP	Supportive	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MINPP1	OTNYPPCC	Supportive	Autosomal recessive	[1]
TOE1	OTVWYJS9	Strong	Autosomal recessive	[2]

References

• [1] Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 Mar;29(3):411-421. doi: 10.1038/s41431-020-00749-x. Epub 2020 Nov 9.
• [2] Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.