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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
14 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Thyroid hypoplasia

CREBBP FOXE1
NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.8)
NKX2-1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



Rubinstein-Taybi syndrome due to CREBBP mutations
Thyroid hypoplasia

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:
2 OMIM references -
No MeSH references

Thyroid hypoplasia

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism



Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)