Mosaic trisomy 15

Summary

Mosaic trisomy 15 (MONDO:0015727) is a disease. A subtype of chromosome 15 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 6

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0000707	Abnormality of the nervous system	Very frequent (80-99%)
HP:0001155	Abnormality of the hand	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0002916	Abnormality of chromosome segregation	Frequent (30-79%)
HP:0004097	Deviation of finger	Frequent (30-79%)
HP:0100490	Camptodactyly of finger	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mosaic trisomy 15
Mondo ID	MONDO:0015727
MeSH	C538037
Orphanet	1706
SNOMED CT	764619001
UMLS	C2931707
MedGen	419475
GARD	0005313
Is cancer (heuristic)	no

Also known as: chromosome 15, trisomy mosaicism · Mosaic trisomy chromosome 15 · Mosaic trisomy type 15 · trisomy 15 mosaicism

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 15 disorder › mosaic trisomy 15

Related subtypes (3): ring chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Angelman syndrome due to paternal uniparental disomy of chromosome 15

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.