Chromosome 17p13.1 deletion syndrome

Summary

Chromosome 17p13.1 deletion syndrome (MONDO:0013415) is a disease. A subtype of chromosome 17p deletion — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chromosome 17p13.1 deletion syndrome
Mondo ID	MONDO:0013415
OMIM	613776
DOID	DOID:0060402
UMLS	C3151069
MedGen	462419
GARD	0024922
Is cancer (heuristic)	no

Also known as: 17p13.1 deletion syndrome · chromosome 17p13.1 deletion syndrome

Data availability: 5 ClinVar variants.

Disease family

This is a subtype of chromosome 17p deletion. 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 › partial deletion of chromosome 17 › chromosome 17p deletion › chromosome 17p13.1 deletion syndrome

Related subtypes (3): hereditary neuropathy with liability to pressure palsies, Miller-Dieker lissencephaly syndrome, distal 17p13.3 microdeletion syndrome

Subtypes (1): distal 17p13.1 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

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

4 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
224826	Single allele		Pathogenic	criteria provided, single submitter
224827	Single allele		Pathogenic	criteria provided, single submitter
224828	Single allele		Pathogenic	criteria provided, single submitter
224829	Single allele		Pathogenic	criteria provided, single submitter
224825	NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4		Likely 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.