peroxisome biogenesis disorder 14B

Summary

peroxisome biogenesis disorder 14B (MONDO:0013967) is a disease caused by PEX11B (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: PEX11B (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	peroxisome biogenesis disorder 14B
Mondo ID	MONDO:0013967
OMIM	614920
DOID	DOID:0081274
UMLS	C3554055
MedGen	766969
GARD	0015881
Is cancer (heuristic)	no

Also known as: peroxisome biogenesis disorder 14B · peroxisome biogenesis disorder type 14B · PEX11B peroxisome biogenesis disorder · PEX14B

Data availability: 19 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › developmental anomaly of metabolic origin › Zellweger spectrum disorders › peroxisome biogenesis disorder due to PEX11B defect › peroxisome biogenesis disorder 14B

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

19 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 5 likely pathogenic, 4 conflicting classifications of pathogenicity, 3 pathogenic/likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1686020	NM_003846.3(PEX11B):c.1A>G (p.Met1Val)	PEX11B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
39723	NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)	PEX11B	Pathogenic	no assertion criteria provided
453306	NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)	PEX11B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
453307	NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	PEX11B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2584929	NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)	PEX11B	Likely pathogenic	criteria provided, single submitter
2692363	NM_003846.3(PEX11B):c.11G>A (p.Trp4Ter)	PEX11B	Likely pathogenic	no assertion criteria provided
3362605	NM_003846.3(PEX11B):c.148_149del (p.Ser50fs)	PEX11B	Likely pathogenic	criteria provided, single submitter
3592175	NM_003846.3(PEX11B):c.278_281del (p.Arg93fs)	PEX11B	Likely pathogenic	criteria provided, single submitter
3592207	NM_003846.3(PEX11B):c.308del (p.Leu103fs)	PEX11B	Likely pathogenic	criteria provided, single submitter
1351893	NM_003846.3(PEX11B):c.2T>G (p.Met1Arg)	PEX11B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1431664	NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter)	PEX11B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2114526	NM_003846.3(PEX11B):c.338G>A (p.Arg113His)	PEX11B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2116641	NM_003846.3(PEX11B):c.172+1G>A	PEX11B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
497778	NM_003846.3(PEX11B):c.685C>T (p.Arg229Cys)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts
594186	NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts
595440	NM_003846.3(PEX11B):c.79CTT[1] (p.Leu28del)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts
596341	NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts
596526	NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts
943732	NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln)	PEX11B	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
PEX11B	Definitive	Autosomal recessive	peroxisome biogenesis disorder 14B	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PEX11B	Orphanet:44	Neonatal adrenoleukodystrophy
PEX11B	Orphanet:772	Infantile Refsum disease
PEX11B	Orphanet:912	Zellweger syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PEX11B	HGNC:8853	ENSG00000131779	O96011	Peroxisomal membrane protein 11B	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PEX11B	Peroxisomal membrane protein 11B	Involved in peroxisomal proliferation.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PEX11B	Other/Unknown	no		PEX11

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 9	1
medial globus pallidus	1
prefrontal cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PEX11B	289	ubiquitous	marker	prefrontal cortex, Brodmann (1909) area 9, medial globus pallidus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PEX11B	1,331

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PEX11B	O96011	90.12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Class I peroxisomal membrane protein import	1	519.1×	0.002	PEX11B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of peroxisome size	1	5617.3×	7e-04	PEX11B
peroxisome fission	1	1532.0×	0.001	PEX11B
peroxisome organization	1	802.5×	0.002	PEX11B
signal transduction	1	16.1×	0.062	PEX11B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PEX11B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	PEX11B

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PEX11B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.