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epidermolysis bullosa, junctional 6, with pyloric atresia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa, junctional 6, with pyloric atresia

MONDO:0859233

Overview

GeneticsAutosomal recessive · ITGA6 (chr 2)

OnsetCONGENITAL

ResearchLimited published research (2 articles)

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: Congenital pyloric atresia, Lamina lucida cleavage, Abnormal blistering of the skin, and Aplasia cutis congenita of scalp and others.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal blistering of the skin, Oral mucosal blisters

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.

ITGA6 encodes integrin subunit alpha 6 (1,130 aa). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion. Highest expression in Nerve Tibial (283.3 TPM) and Minor Salivary Gland (82.2 TPM).

Epidermolysis bullosa, junctional 6, with pyloric atresia is associated with mutations in the ITGA6 gene on chromosome 2.

The ITGA6 protein participates in Mammary myoepithelial progenitor cell produces mature myoepithelial cell, Mammary stem cell produces myoepithelial/basal progenitor, and Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis pathways.

ITGA6 is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Epidermolysis bullosa with pyloric atresia (EB-PA) should be suspected in newborns with the following clinical features:

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for epidermolysis bullosa, junctional 6, with pyloric atresia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for epidermolysis bullosa with pyloric atresia (EB-PA) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EB-PA, the evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Epidermolysis Bullosa with Pyloric Atresia

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations in survivors, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended. Table 7. Recommended Surveillance for Individuals with Epidermolysis Bullosa with Pyloric Atresia

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 epidermolysis bullosa, junctional 6, with pyloric atresia.

2 publications have been identified in PubMed for epidermolysis bullosa, junctional 6, with pyloric atresia. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Lehavi M (2025). [PMID: 40114115](https://pubmed.ncbi.nlm.nih.gov/40114115/). *BMC Pregnancy Childbirth*. [Review / Meta-Analysis]
Widhiati S (2024). [PMID: 39070921](https://pubmed.ncbi.nlm.nih.gov/39070921/). *JAAD Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619817

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?

← Back to All Diseases

System/Concern	Evaluation	Comment
Cutaneous mucosal manifestations	Eval of blister formation sites incl skin oral mucosa	Endoscopy can be traumatic should be avoided if possible.
Tracheal manifestations	Assess for hoarse cry in infant	May be caused by airway obstruction w/granulation tissue or tracheomalacia1
Pyloric atresia	Surgical referral for those w/manifestations of pyloric atresia	Renal ureteral anomalies
Genetic counseling	By genetics professionals2	To inform affected persons their families about nature, MOI, implications of EB-PA to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Epidermolysis Bullosa with Pyloric Atresia Manifestation/Concern	Treatment	Considerations/Other
Mucosal involvement (incl tracheal gastrointestinal)	Decisions about tracheostomy should involve family consider medical condition of infant.	Poor prognosis severe pain warrants discussion w/family hospital ethics committee to determine type of intervention comfort care to provide.1; Consult w/dietitian or nutritionist if there is significant mucosal blistering in mouth preventing adequate oral intake.; Consider placement of gastrostomy.

Kisho

epidermolysis bullosa, junctional 6, with pyloric atresia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Pyloric Atresia

Epidermolysis Bullosa

Clinical Guidance

Therapies Under Investigation

Clinical Trials

epidermolysis bullosa, junctional 6, with pyloric atresia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Pyloric Atresia

Epidermolysis Bullosa

Clinical Guidance

Therapies Under Investigation

Clinical Trials