Partial duplication of the short arm of chromosome 3

Summary

Partial duplication of the short arm of chromosome 3 (MONDO:0016940) is a disease. A subtype of partial duplication of chromosome 3 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	partial duplication of the short arm of chromosome 3
Mondo ID	MONDO:0016940
MeSH	C536811
Orphanet	262707
ICD-11	514472294
UMLS	C5679720
MedGen	1826042
Is cancer (heuristic)	no

Also known as: 3p duplication · 3p trisomy · chromosome 3p duplication · Duplication 3p · partial duplication of chromosome 3p · partial duplication of the short arm of chromosome type 3 · partial trisomy 3p · partial trisomy of chromosome 3p · partial trisomy of the short arm of chromosome 3 · trisomy 3p

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial duplication of chromosome 3 › partial duplication of the short arm of chromosome 3

Related subtypes (1): partial duplication of the long arm of chromosome 3

Subtypes (1): distal trisomy 3p

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4819217	Single allele	LOC126806655	Pathogenic	criteria provided, single submitter

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.