45,X/46,XY mixed gonadal dysgenesis
diseaseOn this page
Also known as 45,X/46,XY disorder of Sex development45,X/46,XY gonadal dysgenesis45,X/46,XY MGD45,X0/46,XY MGD45,X0/46,XY mixed gonadal dysgenesisMixed gonadal dysgenesisXY/X0
Summary
45,X/46,XY mixed gonadal dysgenesis (MONDO:0015779) is a disease and 1 clinical trial. A subtype of gonadal dysgenesis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 60
- Clinical trials: 1
Clinical features
Signs & symptoms
Clinical features (HPO)
60 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0008968 | Muscle hypertrophy of the lower extremities | Very frequent (80-99%) |
| HP:0012741 | Unilateral cryptorchidism | Very frequent (80-99%) |
| HP:0000027 | Azoospermia | Frequent (30-79%) |
| HP:0000033 | Ambiguous genitalia, male | Frequent (30-79%) |
| HP:0000047 | Hypospadias | Frequent (30-79%) |
| HP:0000054 | Micropenis | Frequent (30-79%) |
| HP:0000061 | Ambiguous genitalia, female | Frequent (30-79%) |
| HP:0000062 | Ambiguous genitalia | Frequent (30-79%) |
| HP:0000808 | Penoscrotal hypospadias | Frequent (30-79%) |
| HP:0000812 | Abnormal internal genitalia | Frequent (30-79%) |
| HP:0000837 | Increased circulating gonadotropin level | Frequent (30-79%) |
| HP:0003251 | Male infertility | Frequent (30-79%) |
| HP:0008689 | Bilateral cryptorchidism | Frequent (30-79%) |
| HP:0100779 | Urogenital sinus anomaly | Frequent (30-79%) |
| HP:0000039 | Epispadias | Occasional (5-29%) |
| HP:0000041 | Chordee | Occasional (5-29%) |
| HP:0000045 | Abnormality of the scrotum | Occasional (5-29%) |
| HP:0000048 | Bifid scrotum | Occasional (5-29%) |
| HP:0000077 | Abnormality of the kidney | Occasional (5-29%) |
| HP:0000085 | Horseshoe kidney | Occasional (5-29%) |
| HP:0000150 | Gonadoblastoma | Occasional (5-29%) |
| HP:0000218 | High palate | Occasional (5-29%) |
| HP:0000286 | Epicanthus | Occasional (5-29%) |
| HP:0000347 | Micrognathia | Occasional (5-29%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0000403 | Recurrent otitis media | Occasional (5-29%) |
| HP:0000465 | Webbed neck | Occasional (5-29%) |
| HP:0000505 | Visual impairment | Occasional (5-29%) |
| HP:0000639 | Nystagmus | Occasional (5-29%) |
| HP:0000729 | Autistic behavior | Occasional (5-29%) |
| HP:0000767 | Pectus excavatum | Occasional (5-29%) |
| HP:0000771 | Gynecomastia | Occasional (5-29%) |
| HP:0000821 | Hypothyroidism | Occasional (5-29%) |
| HP:0000823 | Delayed puberty | Occasional (5-29%) |
| HP:0001087 | Developmental glaucoma | Occasional (5-29%) |
| HP:0001256 | Intellectual disability, mild | Occasional (5-29%) |
| HP:0001513 | Obesity | Occasional (5-29%) |
| HP:0001647 | Bicuspid aortic valve | Occasional (5-29%) |
| HP:0001649 | Tachycardia | Occasional (5-29%) |
| HP:0001657 | Prolonged QT interval | Occasional (5-29%) |
| HP:0001680 | Coarctation of aorta | Occasional (5-29%) |
| HP:0001822 | Hallux valgus | Occasional (5-29%) |
| HP:0002162 | Low posterior hairline | Occasional (5-29%) |
| HP:0002164 | Nail dysplasia | Occasional (5-29%) |
| HP:0002442 | Dyscalculia | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (5-29%) |
| HP:0002967 | Cubitus valgus | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | 45,X/46,XY mixed gonadal dysgenesis |
| Mondo ID | MONDO:0015779 |
| Orphanet | 1772 |
| DOID | DOID:0080656 |
| NCIT | C120199 |
| GARD | 0018747 |
| Is cancer (heuristic) | no |
Also known as: 45,X/46,XY disorder of Sex development · 45,X/46,XY gonadal dysgenesis · 45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis · Mixed gonadal dysgenesis · XY/X0
Disease family
This is a subtype of gonadal dysgenesis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › reproductive system disorder › gonadal disorder › hypogonadism › gonadal dysgenesis › 45,X/46,XY mixed gonadal dysgenesis
Related subtypes (4): testicular dysgenesis syndrome, 46 XX gonadal dysgenesis, 46,XY complete gonadal dysgenesis, Turner syndrome
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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06687252 | Not specified | COMPLETED | Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.