Bilateral acute depigmentation of the iris
disease diseaseOn this page
Also known as BADI
Summary
Bilateral acute depigmentation of the iris (MONDO:0019074) is a disease. A subtype of iridogoniodysgenesis — 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): 10
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 62 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
10 HPO clinical features (Orphanet curated; top 10 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007990 | Hypoplastic iris stroma | Obligate (100%) |
| HP:0008034 | Abnormal iris pigmentation | Obligate (100%) |
| HP:0000593 | Abnormal anterior chamber morphology | Frequent (30-79%) |
| HP:0000613 | Photophobia | Frequent (30-79%) |
| HP:0011488 | Abnormal corneal endothelium morphology | Frequent (30-79%) |
| HP:0012372 | Abnormal eye morphology | Frequent (30-79%) |
| HP:0200026 | Ocular pain | Frequent (30-79%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Occasional (5-29%) |
| HP:0012631 | Pigment deposition in the trabecular meshwork | Occasional (5-29%) |
| HP:0012634 | Iris pigment dispersion | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | bilateral acute depigmentation of the iris |
| Mondo ID | MONDO:0019074 |
| Orphanet | 69736 |
| SNOMED CT | 720460007 |
| UMLS | C4304058 |
| MedGen | 929727 |
| GARD | 0018897 |
| Is cancer (heuristic) | no |
Also known as: BADI
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › anterior segment dysgenesis › iridogoniodysgenesis › bilateral acute depigmentation of the iris
Related subtypes (6): congenital microcoria, aniridia-cerebellar ataxia-intellectual disability syndrome, chromosome 6pter-p24 deletion syndrome, Rieger anomaly, congenital ectropion uveae, FOXC1-related anterior segment dysgenesis
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.