visceral neuropathy, familial, 1, autosomal recessive
Findings
No curated finding names visceral neuropathy, familial, 1, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:8000011), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aganglionic megacolonHPOHP:0002251
- 5 of 5 reported patients
- Atresia of the external auditory canalHPOHP:0000413
- 6 of 6 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 3 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- Natal toothHPOHP:0000695
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosus
Show the remaining 4
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 3 of 6 reported patients
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- 1 of 3 reported patients
- Intestinal pseudo-obstructionHPOHP:0004389
- 1 of 3 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ERBB3HGNC:3431
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025