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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
14 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Complete androgen insensitivity syndrome

CREBBP AR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.9)
AR



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Complete androgen insensitivity syndrome
AR



Rubinstein-Taybi syndrome due to CREBBP mutations
Complete androgen insensitivity syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CAIS
- Complete androgen resistance syndrome

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):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Complete androgen insensitivity syndrome

Very frequent
- Decreased body hair / axillar / pubic hairlessness
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Sensitive trouble / deficit
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Tremor


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)