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46,XX gonadal dysgenesis
3 OMIM references -
4 associated genes
53 connected diseases
16 signs/symptoms
Disease Type of connection
46,XY partial gonadal dysgenesis
46,XY complete gonadal dysgenesis
Ovarian hyperstimulation syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Cytomegalic congenital adrenal hypoplasia
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Isolated follicle stimulating hormone deficiency
Glucocorticoid resistance
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Partial atrioventricular canal
Single ventricular septal defect
Tetralogy of Fallot
Familial partial lipodystrophy due to AKT2 mutations
Generalized resistance to thyroid hormone
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
Acute promyelocytic leukemia
Alveolar rhabdomyosarcoma
Autosomal agammaglobulinemia
Hereditary breast and ovarian cancer syndrome
Richieri Costa-Pereira syndrome
SHORT syndrome
Congenital isolated ACTH deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Common variable immunodeficiency
Anophthalmia / microphthalmia - esophageal atresia
Brachydactyly type A2
Brachydactyly type C
Colobomatous microphthalmia
Distal 22q11.2 microdeletion syndrome
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
- 46,XX complete gonadal dysgenesis
- 46,XX ovarian dysgenesis
- 46,XX pure gonadal dysgenesis
- Follicular stimulating hormone-resistant ovaries
- Hypergonadotropic ovarian dysgenesis
- XX female gonadal dysgenesis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D023961

Gene symbol UniProt reference OMIM reference
BMP15 O95972300247
FSHR P23945136435
NR5A1 Q13285184757
PSMC3IP Q9P2W1608665
Very frequent
- Abnormal / polycystic ovaries
- Autosomal dominant inheritance
- Late puberty / hypogonadism / hypogenitalism
- Primary amenorrhea
- Sterility / hypofertility

- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hearing loss / hypoacusia / deafness
- Long hand / arachnodactyly
- Lung fibrosis
- Metabolic anomalies
- Microcephaly
- Precocious menopause / secondary amenorrhea
- Short stature / dwarfism / nanism
- X-linked recessive inheritance