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peroxisome biogenesis disorder 13A (Zellweger) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 13A (Zellweger)

MONDO:0013952

Also known as:PBD13Aperoxisome biogenesis disorder, complementation group K

Overview

GeneticsAutosomal recessive · PEX14 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Seizure, Low muscle tone (hypotonia), Enlarged liver (hepatomegaly), and Generalized hypotonia and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Enlarged liver (hepatomegaly), Intrahepatic cholestasis, Jaundice

Genetic Landscape

PEX14 function has not been fully characterized.

Peroxisome biogenesis disorder 13A (Zellweger) is associated with mutations in the PEX14 gene on chromosome 1.

Diagnosis

Genetic testing for PEX14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 26 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614887

GARD

Genetic and Rare Diseases Info Center

GARD:15877

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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peroxisome biogenesis disorder 13A (Zellweger)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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