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Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
40 signs/symptoms

Loeys-Dietz syndrome type 1

SHORT syndrome

TGFBR1	(UniProt - OMIM)		PIK3R1	(UniProt - OMIM)
TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFBR1 TGFBR2	(0.73) (0.73)	PIK3R1 PIK3R1

Citations in the biomedical literature:

Loeys-Dietz syndrome type 1		SHORT syndrome
	Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Autosomal dominant inheritance - Flat cheek bones / malar hypoplasia - Hyperextensible joints / articular hyperlaxity - Micrognathia / retrognathia / micrognathism / retrognathism

Loeys-Dietz syndrome type 1		SHORT syndrome
	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 - Long hand / arachnodactyly - Marfanoid morphotype - 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 - Joint dislocation / subluxation - Pectus carinatum - Pectus excavatum - Thin skin		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Deepset eyes / enophthalmos - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad nasal root - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Myotonia - Prominent supraorbital ridge - Short hand / brachydactyly - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic