Mosaic trisomy 4
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 4Mosaic trisomy type 4trisomy 4 mosaicism
Summary
Mosaic trisomy 4 (MONDO:0019865) is a disease. A subtype of chromosome 4 disorder — 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]
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 7 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 4 |
| Mondo ID | MONDO:0019865 |
| Orphanet | 96059 |
| SNOMED CT | 764628000 |
| UMLS | C4272018 |
| MedGen | 1637768 |
| GARD | 0019300 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 4 · Mosaic trisomy type 4 · trisomy 4 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 4 disorder › mosaic trisomy 4
Related subtypes (4): ring chromosome 4, partial deletion of chromosome 4, partial duplication of chromosome 4, maternal uniparental disomy of chromosome 4
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.