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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
13 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Peripheral resistance to thyroid hormones

CREBBP THRA
THRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.55)
THRA



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Peripheral resistance to thyroid hormones
THRA THRB



Rubinstein-Taybi syndrome due to CREBBP mutations
Peripheral resistance to thyroid hormones

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

Peripheral resistance to thyroid hormones

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- 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
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia



Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)