Details of Disease | DrugMAP

General Information of Disease (ID: DISH9OB4)

Disease Name	Obsolete Heimler syndrome 1
Synonyms	HMLR1; peroxisome biogenesis disorder 1C; HEIMLER syndrome 1; hearing loss, sensorineural, with enamel hypoplasia and nail defects
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISH9OB4: Obsolete Heimler syndrome 1

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
PEX1	OTQJF0V7	Strong	Autosomal recessive	[1]
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References

1	Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female. Mol Genet Metab Rep. 2020 Jun 20;24:100615. doi: 10.1016/j.ymgmr.2020.100615. eCollection 2020 Sep.