Cytoscape Web
Click node...

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
5 associated genes
17 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

CREBBP
(UniProt - OMIM)
 HESX1
(UniProt - OMIM)
LHX3
(UniProt - OMIM)
LHX4
(UniProt - OMIM)
POU1F1
(UniProt - OMIM)
PROP1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

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 endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Sleep and vigilance disorders
- Umbilical hernia

Frequent
- Cleft lip and palate
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Septo-optic dysplasia
- Short stature / dwarfism / nanism



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)