ODCs

Cytoscape Web

Click node...

8p11.2 deletion syndrome

1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

8p11.2 deletion syndrome

Loeys-Dietz syndrome type 1

ANK1	(UniProt - OMIM)		TGFBR1	(UniProt - OMIM)
			TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANK1	(0.63)	TGFBR1

Citations in the biomedical literature:

8p11.2 deletion syndrome		Loeys-Dietz syndrome type 1
	Synonym(s): - Del(8)(p11.2) - Monosomy 8p11.2		Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		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

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


COMMON SIGNS	- High vaulted / narrow palate - Micrognathia / retrognathia / micrognathism / retrognathism - Patent ductus arteriosus

8p11.2 deletion syndrome		Loeys-Dietz syndrome type 1
	Very frequent - Hemolytic anemia - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis - Red cell structure / shape anomalies - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Azoospermia / oligospermia / asthenospermia - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - External ear anomalies - Microcephaly - Nystagmus Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Coloboma of iris - Depressed nasal bridge - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Microcornea - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Retinal / chorioretinal dysplasia / dystrophy - Rib number anomalies - Sacral sinus / dimple - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly - Talipes-varus / metatarsal varus - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Autosomal dominant inheritance - Flat foot - Palate anomalies - 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 - 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