ODCs

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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 EP300 haploinsufficiency

Peripheral resistance to thyroid hormones

EP300	(UniProt - OMIM)		THRA	(UniProt - OMIM)
			THRB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.72)	THRA

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		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 EP300 haploinsufficiency
(no data available)