ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
24 signs/symptoms

Stickler syndrome type 2

Ehlers-Danlos syndrome type 2

COL11A1	(UniProt - OMIM)		COL5A1	(UniProt - OMIM)
			COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1 COL11A1	(0.52) (0.52)	COL5A1 COL5A2

Citations in the biomedical literature:

Stickler syndrome type 2		Ehlers-Danlos syndrome type 2
	Synonym(s): (no synonyms)		Synonym(s): - EDS II

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537493		External references: 1 OMIM reference - 1 MeSH reference: C536195

Stickler syndrome type 2		Ehlers-Danlos syndrome type 2
	Very frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Myopia - Sensorineural deafness / hearing loss - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Retinopathy		Very frequent - Autosomal dominant inheritance - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Skin hypoplasia / aplasia / atrophy Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Thin skin - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Chronic arterial hypertension - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Skin tumors / lumps / epidermal cysts