ODCs

Click node...

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 16p13.3 microdeletion

Frasier syndrome


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 16p13.3 microdeletion		Frasier 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 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: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D052159

Frasier syndrome
	Very frequent - Late puberty / hypogonadism / hypogenitalism - Male pseudohermaphrodism / lack of virilisation - Primary amenorrhea Frequent - Nephrotic syndrome - Proteinuria - Renal failure - Renal glomerular defect / glomerulopathy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)