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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Denys-Drash syndrome

CREBBP WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.65)
WT1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Denys-Drash syndrome
WT1



Rubinstein-Taybi syndrome due to CREBBP mutations
Denys-Drash syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Drash syndrome
- Wilms tumor and pseudohermaphroditism

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 oncologic disease
- Rare renal disease
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the genitourinary system -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D030321

Denys-Drash syndrome

Very frequent
- Male pseudohermaphrodism / lack of virilisation
- Nephroblastoma / Wilms tumor
- Nephrotic syndrome
- Proteinuria
- Renal disease / nephropathy

Frequent
- Chronic arterial hypertension

Occasional
- Mixed gonadal dysgenesis


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)