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2 OMIM references -
6 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Rubinstein-Taybi syndrome due to CREBBP mutations

1 OMIM reference -
1 associated gene
No signs/symptoms info

Athyreosis

Rubinstein-Taybi syndrome due to CREBBP mutations

FOXE1	(UniProt - OMIM)		CREBBP	(UniProt - OMIM)
NKX2-1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)
PAX8	(UniProt - OMIM)
SLC26A4	(UniProt - OMIM)
TSHR	(UniProt - OMIM)


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

Citations in the biomedical literature:

Athyreosis		Rubinstein-Taybi syndrome due to CREBBP mutations

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		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: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Athyreosis
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Muscle weakness / flaccidity - Sleep and vigilance disorders Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism
Rubinstein-Taybi syndrome due to CREBBP mutations
(no data available)