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protoporphyria, erythropoietic, 2 (EPP2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

protoporphyria, erythropoietic, 2

MONDO:0060729

Also known as:EPP2

Overview

GeneticsAutosomal dominant · CLPX (chr 15)

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: Increased erythrocyte protoporphyrin concentration and Cutaneous photosensitivity; and common findings: Low iron red blood cell count (iron deficiency anemia).

Organ System	Phenotype Count	Example Features
Lab test results	1	Increased erythrocyte protoporphyrin concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CLPX encodes caseinolytic mitochondrial matrix peptidase chaperone subunit X (633 aa). ATP-dependent chaperone that functions as an unfoldase. Highest expression in Cells EBV-transformed lymphocytes (36.1 TPM) and Testis (34.6 TPM).

Protoporphyria, erythropoietic, 2 is associated with mutations in the CLPX gene on chromosome 15.

The CLPX protein participates in CLPXP:substrate protein (mitochondrial matrix), CLPXP degrades mitochondrial matrix proteins, and Substrate of CLPXP (mitrochondrial matrix) pathways.

CLPX is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for protoporphyria, erythropoietic, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for protoporphyria, erythropoietic, 2.

33 publications have been identified in PubMed for protoporphyria, erythropoietic, 2. Research spans Epidemiology / Natural History (27%), Gene Therapy / Novel Therapeutics (21%), and Case Report / Case Series (12%).

Research Type	Count	% of Total
Disease patterns and progression	9	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618015

Questions for Your Care Team

→Should I pursue genetic testing for CLPX, and what would the results mean for my family?
→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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Kisho

protoporphyria, erythropoietic, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

protoporphyria, erythropoietic, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications