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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
16 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
46,XX gonadal dysgenesis

CACNG2 BMP15
CDH15 FSHR
CTNNB1 NR5A1
DOCK8 PSMC3IP
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.89)
NR5A1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
46,XX gonadal dysgenesis
BMP15 FSHR NR5A1 PSMC3IP



Autosomal dominant nonsyndromic intellectual deficit
46,XX gonadal dysgenesis

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
13 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D023961

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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)