Details of Disease

General Information of Disease (ID: DIS8FORA)

Disease Name Peroxisome biogenesis disorder type 3B
Synonyms PBD3B; infantile phytanic acid storage disease; peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder 3B
Definition
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
Disease Hierarchy
DIS4TC9O: Peroxisome biogenesis disorder due to PEX12 defect
DIS8FORA: Peroxisome biogenesis disorder type 3B
Disease Identifiers
MONDO ID
MONDO_0009959
UMLS CUI
C3550693
OMIM ID
266510
MedGen ID
763607
Orphanet ID
772

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PEX5 OTK4LMG7 Strong Biomarker [1]
PEX12 OT9F6LPN Definitive Autosomal recessive [2]
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References

1 Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet. 1995 Feb;9(2):115-25. doi: 10.1038/ng0295-115.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.