Mosaic trisomy 12
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 12Mosaic trisomy type 12trisomy 12 mosaicism
Summary
Mosaic trisomy 12 (MONDO:0015718) is a disease. A subtype of chromosome 12 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): 19
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
19 HPO clinical features (Orphanet curated; top 19 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000286 | Epicanthus | Frequent (30-79%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (30-79%) |
| HP:0000369 | Low-set ears | Frequent (30-79%) |
| HP:0000431 | Wide nasal bridge | Frequent (30-79%) |
| HP:0001252 | Hypotonia | Frequent (30-79%) |
| HP:0001263 | Global developmental delay | Frequent (30-79%) |
| HP:0000316 | Hypertelorism | Occasional (5-29%) |
| HP:0000337 | Broad forehead | Occasional (5-29%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0000470 | Short neck | Occasional (5-29%) |
| HP:0000508 | Ptosis | Occasional (5-29%) |
| HP:0000639 | Nystagmus | Occasional (5-29%) |
| HP:0001561 | Polyhydramnios | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0004322 | Short stature | Occasional (5-29%) |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | Occasional (5-29%) |
| HP:0100790 | Hernia | Occasional (5-29%) |
| HP:6000010 | Linear Hyperpigmentation along Blaschko’s lines | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 12 |
| Mondo ID | MONDO:0015718 |
| Orphanet | 1698 |
| SNOMED CT | 764463001 |
| UMLS | C4706889 |
| MedGen | 1631133 |
| GARD | 0005304 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 12 · Mosaic trisomy type 12 · trisomy 12 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 12 disorder › mosaic trisomy 12
Related subtypes (3): ring chromosome 12, partial deletion of chromosome 12, partial duplication of chromosome 12
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.