Mosaic genome-wide paternal uniparental disomy
diseaseOn this page
Also known as androgenetic/biparental mosaicismgenome-wide paternal uniparental disomy mosaicismMosaic genome-wide paternal UPD
Summary
Mosaic genome-wide paternal uniparental disomy (MONDO:0018007) is a disease. A subtype of uniparental disomy — 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 | 13 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic genome-wide paternal uniparental disomy |
| Mondo ID | MONDO:0018007 |
| Orphanet | 329813 |
| UMLS | C5190828 |
| MedGen | 1679626 |
| GARD | 0021493 |
| Is cancer (heuristic) | no |
Also known as: androgenetic/biparental mosaicism · genome-wide paternal uniparental disomy mosaicism · Mosaic genome-wide paternal UPD
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › uniparental disomy › mosaic genome-wide paternal uniparental disomy
Related subtypes (26): paternal uniparental disomy of chromosome 14, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, paternal uniparental disomy of chromosome 1, maternal uniparental disomy of chromosome 1, maternal uniparental disomy of chromosome X, paternal uniparental disomy of chromosome X, maternal uniparental disomy of chromosome 2, maternal uniparental disomy of chromosome 4, maternal uniparental disomy of chromosome 6, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, maternal uniparental disomy of chromosome 9, maternal uniparental disomy of chromosome 14, maternal uniparental disomy of chromosome 16, maternal uniparental disomy of chromosome 20, maternal uniparental disomy of chromosome 21, maternal uniparental disomy of chromosome 22, paternal uniparental disomy of chromosome 5, paternal uniparental disomy of chromosome 6, paternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, paternal uniparental disomy of chromosome 20, paternal uniparental disomy of chromosome 21, maternal uniparental disomy of chromosome 13, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Angelman syndrome due to paternal uniparental disomy of chromosome 15, paternal uniparental disomy of chromosome 13
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.