chromosome 8Q12.1-q21.2 deletion syndrome
disease diseaseOn this page
Also known as Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome
Summary
chromosome 8Q12.1-q21.2 deletion syndrome (MONDO:0010852) is a disease. A subtype of partial deletion of the long arm of chromosome 8 — 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 | chromosome 8Q12.1-q21.2 deletion syndrome |
| Mondo ID | MONDO:0010852 |
| MeSH | C536574 |
| OMIM | 600257 |
| UMLS | C1838346 |
| MedGen | 333071 |
| GARD | 0010002 |
| Is cancer (heuristic) | no |
Also known as: Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome · chromosome 8Q12.1-q21.2 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 8 › partial deletion of the long arm of chromosome 8 › chromosome 8Q12.1-q21.2 deletion syndrome
Related subtypes (5): trichorhinophalangeal syndrome type II, mesomelia-synostoses syndrome, 8q22.1 microdeletion syndrome, chromosome 8q21.11 deletion syndrome, 8q24.3 microdeletion syndrome
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.