Syndrome caused by partial chromosomal duplication

Summary

Syndrome caused by partial chromosomal duplication (MONDO:0000762) is a disease (an umbrella term covering 23 Mondo subtypes). A subtype of chromosomal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 23 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	syndrome caused by partial chromosomal duplication
Mondo ID	MONDO:0000762
DOID	DOID:0060429
Is cancer (heuristic)	no

Also known as: microduplication sydrome

Disease family

This is a subtype of chromosomal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication

Related subtypes (17): mosaic variegated aneuploidy syndrome, syndrome caused by partial chromosomal deletion, Prader-Willi syndrome, Silver-Russell syndrome, Bloom syndrome, duplication/inversion 15q11, polyploidy, autosomal anomaly, gonosome anomaly, FRAXD syndrome, chromosome inversion disorder, aneuploidy, uniparental disomy, ring chromosome disorder, chromosome Xq13 duplication syndrome, chromosome 1p36 deletion syndrome, proximal, chromosome 16q12 duplication syndrome

Subtypes (23): partial duplication of chromosome 1, partial duplication of chromosome 2, partial duplication of chromosome 3, partial duplication of chromosome 4, partial trisomy/tetrasomy of chromosome 5, partial duplication of chromosome 6, partial duplication of chromosome 7, partial duplication of chromosome 8, partial trisomy/tetrasomy of chromosome 9, partial duplication of chromosome 10, partial duplication of chromosome 11, partial duplication of chromosome 16, partial duplication of chromosome 17, partial trisomy/tetrasomy of chromosome 18, partial duplication of chromosome 19, partial trisomy of chromosome 20, partial duplication of the long arm of chromosome 14, partial duplication of the long arm of chromosome 15, partial duplication of the long arm of chromosome 22, partial duplication of chromosome X, partial duplication of chromosome 12, partial duplication of chromosome 13, partial segmental duplication

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.