Mosaic trisomy 5

disease
On this page

Also known as Mosaic trisomy chromosome 5Mosaic trisomy type 5trisomy 5 mosaicism

Summary

Mosaic trisomy 5 (MONDO:0019866) is a disease. A subtype of chromosome 5 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:

TypeClassValueGeographyValidation
Cases/families8WorldwideValidated
Point prevalence<1 / 1 000 000WorldwideValidated

Identifiers

Disease identifiers

FieldValue
Canonical namemosaic trisomy 5
Mondo IDMONDO:0019866
MeSHC537762
Orphanet96060
SNOMED CT764629008
UMLSC2931603
MedGen419849
GARD0019301
Is cancer (heuristic)no

Also known as: Mosaic trisomy chromosome 5 · Mosaic trisomy type 5 · trisomy 5 mosaicism

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 5 disorder › mosaic trisomy 5

Related subtypes (4): ring chromosome 5, partial deletion of chromosome 5, partial trisomy/tetrasomy of chromosome 5, paternal uniparental disomy of chromosome 5

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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.