homozygous 11P15-p14 deletion syndrome

Summary

homozygous 11P15-p14 deletion syndrome (MONDO:0011678) is a disease. A subtype of partial deletion of the short arm of chromosome 11 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	homozygous 11P15-p14 deletion syndrome
Mondo ID	MONDO:0011678
MeSH	C564701
OMIM	606528
UMLS	C1847866
MedGen	338336
GARD	0024816
Is cancer (heuristic)	no

Also known as: chromosome 11p15-p14 deletion syndrome · homozygous 11P15-p14 deletion syndrome

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal deletion › partial deletion of chromosome 11 › partial deletion of the short arm of chromosome 11 › homozygous 11P15-p14 deletion syndrome

Related subtypes (4): WAGR syndrome, Potocki-Shaffer syndrome, chromosome 11p13 deletion syndrome, distal, Beckwith-Wiedemann syndrome due to 11p15 microdeletion

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.