Cytoscape Web
Click node...


4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Combined pituitary hormone deficiencies, genetic forms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

GLI2 CREBBP
HESX1
OTX2
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POU1F1
(0.7)
CREBBP



Citations in the biomedical literature:


Combined pituitary hormone deficiencies, genetic forms
GLI2 HESX1 OTX2 POU1F1 PROP1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Combined pituitary hormone deficiencies, genetic forms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
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 (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.