Mosaic trisomy 9
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 9Mosaic trisomy type 9trisomy 9 mosaicism
Summary
Mosaic trisomy 9 (MONDO:0020490) is a disease. A subtype of chromosome 9 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): 62
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)
62 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (80-99%) |
| HP:0000369 | Low-set ears | Very frequent (80-99%) |
| HP:0000568 | Microphthalmia | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0000218 | High palate | Frequent (30-79%) |
| HP:0000239 | Large fontanelles | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0000414 | Bulbous nose | Frequent (30-79%) |
| HP:0000470 | Short neck | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (30-79%) |
| HP:0001562 | Oligohydramnios | Frequent (30-79%) |
| HP:0001629 | Ventricular septal defect | Frequent (30-79%) |
| HP:0001762 | Talipes equinovarus | Frequent (30-79%) |
| HP:0001838 | Rocker bottom foot | Frequent (30-79%) |
| HP:0002006 | Facial cleft | Frequent (30-79%) |
| HP:0002827 | Hip dislocation | Frequent (30-79%) |
| HP:0008736 | Hypoplasia of penis | Frequent (30-79%) |
| HP:0012815 | Hypoplastic female external genitalia | Frequent (30-79%) |
| HP:0040019 | Finger clinodactyly | Frequent (30-79%) |
| HP:0000085 | Horseshoe kidney | Occasional (5-29%) |
| HP:0000110 | Renal dysplasia | Occasional (5-29%) |
| HP:0000126 | Hydronephrosis | Occasional (5-29%) |
| HP:0000130 | Abnormality of the uterus | Occasional (5-29%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0000269 | Prominent occiput | Occasional (5-29%) |
| HP:0000316 | Hypertelorism | Occasional (5-29%) |
| HP:0000465 | Webbed neck | Occasional (5-29%) |
| HP:0000476 | Cystic hygroma | Occasional (5-29%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (5-29%) |
| HP:0000601 | Hypotelorism | Occasional (5-29%) |
| HP:0001195 | Single umbilical artery | Occasional (5-29%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (5-29%) |
| HP:0001561 | Polyhydramnios | Occasional (5-29%) |
| HP:0001631 | Atrial septal defect | Occasional (5-29%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (5-29%) |
| HP:0001651 | Dextrocardia | Occasional (5-29%) |
| HP:0001654 | Abnormal heart valve morphology | Occasional (5-29%) |
| HP:0001706 | Endocardial fibroelastosis | Occasional (5-29%) |
| HP:0001746 | Asplenia | Occasional (5-29%) |
| HP:0001789 | Hydrops fetalis | Occasional (5-29%) |
| HP:0001792 | Small nail | Occasional (5-29%) |
| HP:0001869 | Deep plantar creases | Occasional (5-29%) |
| HP:0002101 | Abnormal lung lobation | Occasional (5-29%) |
| HP:0002119 | Ventriculomegaly | Occasional (5-29%) |
| HP:0002414 | Spina bifida | Occasional (5-29%) |
| HP:0002566 | Intestinal malrotation | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 9 |
| Mondo ID | MONDO:0020490 |
| MeSH | C535454 |
| Orphanet | 99776 |
| SNOMED CT | 764989007 |
| UMLS | C2930908 |
| MedGen | 419661 |
| GARD | 0000043 |
| NORD | 966 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 9 · Mosaic trisomy type 9 · trisomy 9 mosaicism
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 9 disorder › mosaic trisomy 9
Related subtypes (4): partial deletion of chromosome 9, partial trisomy/tetrasomy of chromosome 9, ring chromosome 9, maternal uniparental disomy of chromosome 9
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.