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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
16 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
46,XX gonadal dysgenesis

CREBBP BMP15
FSHR
NR5A1
PSMC3IP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.56)
NR5A1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
46,XX gonadal dysgenesis
BMP15 FSHR NR5A1 PSMC3IP



Rubinstein-Taybi syndrome due to CREBBP mutations
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 bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(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

External references:
1 OMIM reference -
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


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)