Details of Disease

General Information of Disease (ID: DIS1YKZQ)

Disease Name Peroxisome biogenesis disorder 4B
Synonyms PBD4B; non-classic peroxisome biogenesis disorder; peroxisome biogenesis disorder type 4B; peroxisome biogenesis disorder 4B
Disease Hierarchy
DISSSLCF: Peroxisome biogenesis disorder due to PEX6 defect
DIS1YKZQ: Peroxisome biogenesis disorder 4B
Disease Identifiers
MONDO ID
MONDO_0013931
UMLS CUI
C3553937
OMIM ID
614863
MedGen ID
766851

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
PEX6 OTFAK5EF Definitive Autosomal recessive [1]
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References

1 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.