Cap polyposis

Summary

Cap polyposis (MONDO:0015565) is a disease. A subtype of inflammatory bowel disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		67	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0200063	Colorectal polyposis	Obligate (100%)
HP:0002019	Constipation	Very frequent (80-99%)
HP:0002027	Abdominal pain	Very frequent (80-99%)
HP:0002573	Hematochezia	Very frequent (80-99%)
HP:0002582	Atrophic gastritis	Very frequent (80-99%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0002014	Diarrhea	Frequent (30-79%)
HP:0003270	Abdominal distention	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cap polyposis
Mondo ID	MONDO:0015565
Orphanet	160148
ICD-11	1387262691
SNOMED CT	720604008
UMLS	C4303971
MedGen	929640
GARD	0020038
Is cancer (heuristic)	no

Also known as: Cap inflammatory polyposis · eroded polypoid hyperplasia · inflammatory myoglandular polyps · polypoid prolapsing folds

Disease family

This is a subtype of inflammatory bowel disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inflammatory bowel disease › cap polyposis

Related subtypes (39): Crohn disease, colitis, proctitis, ulcerative proctosigmoiditis, inflammatory bowel disease 11, cutaneous photosensitivity-lethal colitis syndrome, inflammatory bowel disease 1, inflammatory bowel disease 2, inflammatory bowel disease 3, inflammatory bowel disease 7, inflammatory bowel disease 5, inflammatory bowel disease 8, inflammatory bowel disease 6, inflammatory bowel disease 4, inflammatory bowel disease 9, inflammatory bowel disease 10, inflammatory bowel disease 12, inflammatory bowel disease 13, inflammatory bowel disease 14, inflammatory bowel disease 15, inflammatory bowel disease 16, inflammatory bowel disease 17, inflammatory bowel disease 18, inflammatory bowel disease 19, inflammatory bowel disease 20, inflammatory bowel disease 21, inflammatory bowel disease 22, inflammatory bowel disease 23, inflammatory bowel disease 24, inflammatory bowel disease 26, inflammatory bowel disease 27, undetermined colitis, IL10-related early-onset inflammatory bowel disease, neonatal inflammatory skin and bowel disease, inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive, inflammatory bowel disease 30, TRIM22-related inflammatory bowel disease, ALPI-related inflammatory bowel disease, inflammatory bowel disease 29

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.