Mosaic trisomy 14

Summary

Mosaic trisomy 14 (MONDO:0015725) is a disease. A subtype of chromosome 14 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): 30

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0000154	Wide mouth	Very frequent (80-99%)
HP:0000218	High palate	Very frequent (80-99%)
HP:0000347	Micrognathia	Very frequent (80-99%)
HP:0000426	Prominent nasal bridge	Very frequent (80-99%)
HP:0000431	Wide nasal bridge	Very frequent (80-99%)
HP:0000470	Short neck	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001508	Failure to thrive	Very frequent (80-99%)
HP:0002007	Frontal bossing	Very frequent (80-99%)
HP:0002916	Abnormality of chromosome segregation	Very frequent (80-99%)
HP:0030680	Abnormal cardiovascular system morphology	Very frequent (80-99%)
HP:0000358	Posteriorly rotated ears	Frequent (30-79%)
HP:0000028	Cryptorchidism	Frequent (30-79%)
HP:0000047	Hypospadias	Frequent (30-79%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000463	Anteverted nares	Frequent (30-79%)
HP:0000581	Blepharophimosis	Frequent (30-79%)
HP:0000774	Narrow chest	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0004397	Ectopic anus	Frequent (30-79%)
HP:0007598	Bilateral single transverse palmar creases	Frequent (30-79%)
HP:0008551	Microtia	Frequent (30-79%)
HP:0008736	Hypoplasia of penis	Frequent (30-79%)
HP:0000508	Ptosis	Occasional (5-29%)
HP:0000772	Abnormal rib morphology	Occasional (5-29%)
HP:0008056	Aplasia/Hypoplasia affecting the eye	Occasional (5-29%)
HP:0100490	Camptodactyly of finger	Occasional (5-29%)
HP:0100559	Lower limb asymmetry	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mosaic trisomy 14
Mondo ID	MONDO:0015725
MeSH	C535489
Orphanet	1703
NCIT	C116319
SNOMED CT	764466009
UMLS	C2930917
MedGen	418947
GARD	0001327
Is cancer (heuristic)	no

Also known as: Mosaic trisomy chromosome 14 · Mosaic trisomy type 14 · trisomy 14 mosaicism

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 14 disorder › mosaic trisomy 14

Related subtypes (3): paternal uniparental disomy of chromosome 14, ring chromosome 14, maternal uniparental disomy of chromosome 14

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.