Mosaic trisomy 8
disease diseaseOn this page
Also known as Mosaic trisomy chromosome 8Mosaic trisomy type 8trisomy 8 mosaicismWarkany syndrome
Summary
Mosaic trisomy 8 (MONDO:0019867) is a disease. A subtype of chromosome 8, trisomy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 42
Clinical features
Signs & symptoms
Clinical features (HPO)
42 HPO clinical features (Orphanet curated; top 42 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002342 | Intellectual disability, moderate | Very frequent (80-99%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (30-79%) |
| HP:0000126 | Hydronephrosis | Frequent (30-79%) |
| HP:0000268 | Dolichocephaly | Frequent (30-79%) |
| HP:0000276 | Long face | Frequent (30-79%) |
| HP:0000316 | Hypertelorism | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0000377 | Abnormal pinna morphology | Frequent (30-79%) |
| HP:0000400 | Macrotia | Frequent (30-79%) |
| HP:0000411 | Protruding ear | Frequent (30-79%) |
| HP:0000445 | Wide nose | Frequent (30-79%) |
| HP:0000455 | Broad nasal tip | Frequent (30-79%) |
| HP:0000463 | Anteverted nares | Frequent (30-79%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
| HP:0000490 | Deeply set eye | Frequent (30-79%) |
| HP:0000772 | Abnormal rib morphology | Frequent (30-79%) |
| HP:0000774 | Narrow chest | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0001869 | Deep plantar creases | Frequent (30-79%) |
| HP:0002007 | Frontal bossing | Frequent (30-79%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0003275 | Narrow pelvis bone | Frequent (30-79%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (30-79%) |
| HP:0006191 | Deep palmar crease | Frequent (30-79%) |
| HP:0006443 | Patellar aplasia | Frequent (30-79%) |
| HP:0007957 | Corneal opacity | Frequent (30-79%) |
| HP:0009738 | Abnormality of the antihelix | Frequent (30-79%) |
| HP:0100490 | Camptodactyly of finger | Frequent (30-79%) |
| HP:0000028 | Cryptorchidism | Occasional (5-29%) |
| HP:0000098 | Tall stature | Occasional (5-29%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000218 | High palate | Occasional (5-29%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0000470 | Short neck | Occasional (5-29%) |
| HP:0001010 | Hypopigmentation of the skin | Occasional (5-29%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (5-29%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (5-29%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (5-29%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (5-29%) |
| HP:0004322 | Short stature | Occasional (5-29%) |
| HP:0008734 | Decreased testicular size | Occasional (5-29%) |
| HP:0030680 | Abnormal cardiovascular system morphology | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mosaic trisomy 8 |
| Mondo ID | MONDO:0019867 |
| MeSH | C537940 |
| Orphanet | 96061 |
| SNOMED CT | 717335009 |
| UMLS | C1096527 |
| MedGen | 797340 |
| GARD | 0005359 |
| MedDRA | 10053916 |
| Is cancer (heuristic) | no |
Also known as: Mosaic trisomy chromosome 8 · Mosaic trisomy type 8 · trisomy 8 mosaicism · Warkany syndrome
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 8 disorder › chromosome 8, trisomy › mosaic trisomy 8
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.