generalized juvenile polyposis/juvenile polyposis coli
MONDO:0008276Mondo
Findings
No curated finding names generalized juvenile polyposis/juvenile polyposis coli yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 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.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Adenomatous colonic polyposisHPOHP:0005227
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Anemic pallorHPOHP:0001017
- Frequent (30% to 79% of cases)
- HematocheziaHPOHP:0002573
- Frequent (30% to 79% of cases)
- Rectal polyposisHPOHP:0100896
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Multiple gastric polypsHPOHP:0004394
- Occasional (5% to 29% of cases)
- Duodenal polyposisHPOHP:0004783
- Very rare (1% to 4% of cases)
- Small intestinal polyposisHPOHP:0030256
- Very rare (1% to 4% of cases)
Genes
2 genes
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.
- BMPR1AHGNC:1076
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- SMAD4HGNC:6770
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021