Mosaic trisomy 1
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 1Mosaic trisomy type 1trisomy 1 mosaicism
Summary
Mosaic trisomy 1 (MONDO:0015706) is a disease. A subtype of chromosome 1 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): 60
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 1 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
60 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0010880 | Increased nuchal translucency | Occasional (5-29%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (5-29%) |
| HP:0001539 | Omphalocele | Occasional (5-29%) |
| HP:0000107 | Renal cyst | Occasional (5-29%) |
| HP:0000568 | Microphthalmia | Occasional (5-29%) |
| HP:0006956 | Dilation of lateral ventricles | Occasional (5-29%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (5-29%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Occasional (5-29%) |
| HP:0100490 | Camptodactyly of finger | Occasional (5-29%) |
| HP:0001233 | 2-3 finger syndactyly | Occasional (5-29%) |
| HP:0012553 | Hypoplastic thumbnail | Occasional (5-29%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (5-29%) |
| HP:0000280 | Coarse facial features | Occasional (5-29%) |
| HP:0005280 | Depressed nasal bridge | Occasional (5-29%) |
| HP:0000431 | Wide nasal bridge | Occasional (5-29%) |
| HP:0000369 | Low-set ears | Occasional (5-29%) |
| HP:0000154 | Wide mouth | Occasional (5-29%) |
| HP:0000308 | Microretrognathia | Occasional (5-29%) |
| HP:0001561 | Polyhydramnios | Occasional (5-29%) |
| HP:0007759 | Opacification of the corneal stroma | Occasional (5-29%) |
| HP:0000202 | Orofacial cleft | Occasional (5-29%) |
| HP:0000803 | Renal cortical cysts | Occasional (5-29%) |
| HP:0007291 | Posterior fossa cyst | Occasional (5-29%) |
| HP:0002280 | Enlarged cisterna magna | Occasional (5-29%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0001188 | Hand clenching | Occasional (5-29%) |
| HP:0001838 | Rocker bottom foot | Occasional (5-29%) |
| HP:0000377 | Abnormal pinna morphology | Occasional (5-29%) |
| HP:0000256 | Macrocephaly | Occasional (5-29%) |
| HP:0002007 | Frontal bossing | Occasional (5-29%) |
| HP:0000054 | Micropenis | Occasional (5-29%) |
| HP:0001166 | Arachnodactyly | Occasional (5-29%) |
| HP:0001792 | Small nail | Occasional (5-29%) |
| HP:0009943 | Complete duplication of thumb phalanx | Occasional (5-29%) |
| HP:0001770 | Toe syndactyly | Occasional (5-29%) |
| HP:0100040 | Broad 2nd toe | Occasional (5-29%) |
| HP:0010344 | Deviation of the 5th toe | Occasional (5-29%) |
| HP:0001837 | Broad toe | Occasional (5-29%) |
| HP:0002126 | Polymicrogyria | Occasional (5-29%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (5-29%) |
| HP:0002987 | Elbow flexion contracture | Occasional (5-29%) |
| HP:0003244 | Penile hypospadias | Occasional (5-29%) |
| HP:0000954 | Single transverse palmar crease | Occasional (5-29%) |
| HP:0010511 | Long toe | Occasional (5-29%) |
| HP:0000324 | Facial asymmetry | Occasional (5-29%) |
| HP:0007911 | Congenital bilateral ptosis | Occasional (5-29%) |
| HP:0000179 | Thick lower lip vermilion | Occasional (5-29%) |
| HP:0000188 | Short upper lip | Occasional (5-29%) |
| HP:0001032 | Absent distal interphalangeal creases | Occasional (5-29%) |
| HP:0002943 | Thoracic scoliosis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 1 |
| Mondo ID | MONDO:0015706 |
| Orphanet | 1692 |
| UMLS | C5394675 |
| MedGen | 1709039 |
| GARD | 0018736 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 1 · Mosaic trisomy type 1 · trisomy 1 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 1 disorder › mosaic trisomy 1
Related subtypes (6): ring chromosome 1, paternal uniparental disomy of chromosome 1, maternal uniparental disomy of chromosome 1, partial deletion of chromosome 1, partial duplication of chromosome 1, chromosome 1, uniparental disomy 1q12 q21
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.