New Term Request: Peroxisome biogenesis disorder 9B

[vjenkinsFB]

I'd like to request a term for peroxisome biogenesis disorder 9B. There is another condition associated with this gene that is already in DO, rhizomelic chondrodysplasia punctata type 1. PEX7 may also contribute to Refsum disease.

OMIM: https://omim.org/entry/614879

Potential definition: Peroxisome biogenesis disorder 9B has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.

Potential parent term: peroxisomal biogenesis disorder

Synonyms: PBD9B, PEX7-related disorder

ClinVar search term: PEX7[gene] AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig has conflicts"[Properties]) ) AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C2749346/ Peroxisome biogenesis disorder 9B, https://www.ncbi.nlm.nih.gov/medgen/C1859133/ rhizomelic chondrodysplasia punctata type 1

MalaCards page: https://www.malacards.org/card/peroxisome_biogenesis_disorder_9b

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/8860

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/33586206/ Masih S, Moirangthem A, Phadke SR. Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. Am J Med Genet A. 2021;185(5):1504-1508. doi:10.1002/ajmg.a.62110
• https://pubmed.ncbi.nlm.nih.gov/30389805/ Di Cara F, Rachubinski RA, Simmonds AJ. Distinct Roles for Peroxisomal Targeting Signal Receptors Pex5 and Pex7 in Drosophila. Genetics. 2019;211(1):141-149. doi:10.1534/genetics.118.301628
• https://pubmed.ncbi.nlm.nih.gov/14713215/ Van den Brink DM, Brites P, Haasjes J, et al. Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol. 2003;544:69-70. doi:10.1007/978-1-4419-9072-3_9

FlyBase paper(s) to curate with this term: FBrf0241151

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for peroxisome biogenesis disorder 9B, @vjenkinsFB.

We'll review it, get back to you soon and update the DO for the next release.

[allenbaron]

It looks like there are ~8 additional members of the phenotypic series that also need to be added.

@lschriml I created a robot template in Google Drive to help curate the information needed.

A number of these diseases are considered subtypes of Zellweger syndrome (DOID:905), with OMIM & Orphanet agreeing on which these are (data in the Google Sheet with the robot template). I suggest we review & possibly revise the definition of Zellweger syndrome that's currently in the DO and move the corresponding peroxisome biogenesis disorder diseases below it as children.

[lschriml]

Zellweger syndrome subtypes have been reclassified. Parent term definition updated.

Subtypes all added, 9B is DOID:0081438