Syndrome caused by partial chromosomal deletion

Summary

Syndrome caused by partial chromosomal deletion (MONDO:0000761) is a disease (an umbrella term covering 27 Mondo subtypes) and 2 clinical trials. 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: 27 Mondo subtypes
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	syndrome caused by partial chromosomal deletion
Mondo ID	MONDO:0000761
DOID	DOID:0060388
Is cancer (heuristic)	no

Also known as: microdeletion syndrome

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 deletion

Related subtypes (17): mosaic variegated aneuploidy syndrome, syndrome caused by partial chromosomal duplication, 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 (27): Smith-Magenis syndrome, severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, partial chromosome Y deletion, partial deletion of chromosome 1, partial deletion of chromosome 2, partial deletion of chromosome 3, partial deletion of chromosome 4, partial deletion of chromosome 5, partial deletion of chromosome 6, partial deletion of chromosome 7, partial deletion of chromosome 8, partial deletion of chromosome 9, partial deletion of chromosome 10, partial deletion of chromosome 11, partial deletion of chromosome 16, partial deletion of chromosome 17, partial deletion of chromosome 18, partial deletion of chromosome 19, partial deletion of chromosome 20, partial deletion of the long arm of chromosome 13, partial deletion of the long arm of chromosome 14, partial deletion of the long arm of chromosome 15, partial deletion of the long arm of chromosome 21, partial deletion of chromosome X, partial deletion of chromosome 12, 3q27.3 microdeletion syndrome, chromosome 22q deletion

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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01852708	Not specified	COMPLETED	Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
NCT02109770	Not specified	COMPLETED	Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA