ODCs

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2 OMIM references -
2 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 2

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

Loeys-Dietz syndrome type 1

Aneurysm - osteoarthritis syndrome

TGFBR1	(UniProt - OMIM)		SMAD3	(UniProt - OMIM)
TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFBR1 TGFBR2	(0.76) (0.52)	SMAD3 SMAD3

Citations in the biomedical literature:

Loeys-Dietz syndrome type 1		Aneurysm - osteoarthritis syndrome
	Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

Loeys-Dietz syndrome type 1
	Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Autosomal dominant inheritance - Flat foot - High vaulted / narrow palate - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Striae - Tall stature / gigantism / growth acceleration Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Craniostenosis / craniosynostosis / sutural synostosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Pectus carinatum - Pectus excavatum - Thin skin
Aneurysm - osteoarthritis syndrome
(no data available)