ODCs

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2 OMIM references -
2 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Loeys-Dietz syndrome type 1

Hereditary cerebral hemorrhage with amyloidosis, Italian type

TGFBR1	(UniProt - OMIM)		APP	(UniProt - OMIM)
TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFBR2	(0.56)	APP

Citations in the biomedical literature:

Loeys-Dietz syndrome type 1		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic 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: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance

Loeys-Dietz syndrome type 1		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - 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		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus