Mosaic trisomy 3
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 3Mosaic trisomy type 3trisomy 3 mosaicism
Summary
Mosaic trisomy 3 (MONDO:0015060) is a disease. A subtype of chromosome 3 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]
- Phenotypes (HPO): 23
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 6 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
23 HPO clinical features (Orphanet curated; top 23 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000377 | Abnormal pinna morphology | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0011220 | Prominent forehead | Frequent (30-79%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000322 | Short philtrum | Occasional (5-29%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0000369 | Low-set ears | Occasional (5-29%) |
| HP:0000501 | Glaucoma | Occasional (5-29%) |
| HP:0000545 | Myopia | Occasional (5-29%) |
| HP:0000589 | Coloboma | Occasional (5-29%) |
| HP:0001159 | Syndactyly | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Occasional (5-29%) |
| HP:0001382 | Joint hypermobility | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (5-29%) |
| HP:0001531 | Failure to thrive in infancy | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0002041 | Intractable diarrhea | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0002827 | Hip dislocation | Occasional (5-29%) |
| HP:0002829 | Arthralgia | Occasional (5-29%) |
| HP:0003298 | Spina bifida occulta | Occasional (5-29%) |
| HP:0004395 | Malnutrition | Occasional (5-29%) |
| HP:0004808 | Acute myeloid leukemia | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 3 |
| Mondo ID | MONDO:0015060 |
| Orphanet | 100071 |
| SNOMED CT | 764627005 |
| UMLS | C4707012 |
| MedGen | 1646607 |
| GARD | 0005342 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 3 · Mosaic trisomy type 3 · trisomy 3 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 3 disorder › mosaic trisomy 3
Related subtypes (4): partial deletion of chromosome 3, partial duplication of chromosome 3, ring chromosome 3, chromosome 3 duplication syndrome
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.