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3 OMIM references -
4 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
46,XX gonadal dysgenesis
Hypoinsulinemic hypoglycemia and body hemihypertrophy

BMP15 AKT2
FSHR
NR5A1
PSMC3IP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FSHR
(0.65)
AKT2



Citations in the biomedical literature:


46,XX gonadal dysgenesis
BMP15 FSHR NR5A1 PSMC3IP
Hypoinsulinemic hypoglycemia and body hemihypertrophy
AKT2



46,XX gonadal dysgenesis
Hypoinsulinemic hypoglycemia and body hemihypertrophy

Synonym(s):
- 46,XX complete gonadal dysgenesis
- 46,XX ovarian dysgenesis
- 46,XX pure gonadal dysgenesis
- FSH-RO
- Follicular stimulating hormone-resistant ovaries
- Hypergonadotropic ovarian dysgenesis
- XX female gonadal dysgenesis
- XX-GD

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
1 MeSH reference: D023961
External references:
1 OMIM reference -
No MeSH references

46,XX gonadal dysgenesis

Very frequent
- Abnormal / polycystic ovaries
- Autosomal dominant inheritance
- Late puberty / hypogonadism / hypogenitalism
- Primary amenorrhea
- Sterility / hypofertility

Frequent
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- 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


Hypoinsulinemic hypoglycemia and body hemihypertrophy

(no data available)