Mosaic trisomy 7
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 7Mosaic trisomy type 7trisomy 7 mosaicism
Summary
Mosaic trisomy 7 (MONDO:0015771) is a disease. A subtype of chromosome 7 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): 18
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 31 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
18 HPO clinical features (Orphanet curated; top 18 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001511 | Intrauterine growth retardation | Frequent (30-79%) |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | Frequent (30-79%) |
| HP:0007988 | Macular hypopigmentation | Frequent (30-79%) |
| HP:0008897 | Postnatal growth retardation | Frequent (30-79%) |
| HP:0000023 | Inguinal hernia | Occasional (5-29%) |
| HP:0000110 | Renal dysplasia | Occasional (5-29%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000256 | Macrocephaly | Occasional (5-29%) |
| HP:0000324 | Facial asymmetry | Occasional (5-29%) |
| HP:0000347 | Micrognathia | Occasional (5-29%) |
| HP:0000822 | Hypertension | Occasional (5-29%) |
| HP:0000998 | Hypertrichosis | Occasional (5-29%) |
| HP:0001518 | Small for gestational age | Occasional (5-29%) |
| HP:0001622 | Premature birth | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0006297 | Enamel hypoplasia | Occasional (5-29%) |
| HP:0010878 | Fetal cystic hygroma | Occasional (5-29%) |
| HP:0011342 | Mild global developmental delay | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 7 |
| Mondo ID | MONDO:0015771 |
| MeSH | C537822 |
| Orphanet | 1747 |
| SNOMED CT | 764630003 |
| UMLS | C2931631 |
| MedGen | 419125 |
| GARD | 0005354 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 7 · Mosaic trisomy type 7 · trisomy 7 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 7 disorder › mosaic trisomy 7
Related subtypes (5): ring chromosome 7, partial deletion of chromosome 7, partial duplication of chromosome 7, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, paternal uniparental disomy of chromosome 7
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.