Details of Disease

General Information of Disease (ID: DISGDVUY)

• Disease Name: Obsolete infantile multisystem neurologic-endocrine-pancreatic disease
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISGDVUY: Obsolete infantile multisystem neurologic-endocrine-pancreatic disease

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
PTRH2	OTBU39Q1	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.