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visceral neuropathy, familial, 1, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

visceral neuropathy, familial, 1, autosomal recessive

MONDO:8000011

Also known as:Argyrophil myenteric plexus deficiency ofArgyrophil myenteric plexus, deficiency ofNID A

Overview

A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.

GeneticsAutosomal recessive · ERBB3 (chr 12)

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: Hearing loss (hearing impairment), Aganglionic megacolon, and Atresia of the external auditory canal; and very common findings: Natal tooth, Patent ductus arteriosus, Malabsorption, and Recurrent infections and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	6	Functional intestinal obstruction, Intestinal pseudo-obstruction, Vomiting

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.

ERBB3 encodes erb-b2 receptor tyrosine kinase 3 (1,342 aa). Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Highest expression in Nerve Tibial (116.8 TPM) and Skin Sun Exposed Lower leg (71.9 TPM).

Visceral neuropathy, familial, 1, autosomal recessive is associated with mutations in the ERBB3 gene on chromosome 12.

ERBB3 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 4.0.

Diagnosis

Genetic testing for ERBB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 very common features, 8 common features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243180

Orphanet

European rare disease database

Orphanet:99811

GARD

Genetic and Rare Diseases Info Center

GARD:3928

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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visceral neuropathy, familial, 1, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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