ODCs

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1 OMIM reference -
3 associated genes
29 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 23

1 OMIM reference -
2 associated genes
24 signs/symptoms

Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome type 2


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

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Ehlers-Danlos syndrome type 2
	Synonym(s): - EDS I		Synonym(s): - EDS II

	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 (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: 1-9 / 100 000 Average age onset: neonatal/infancy 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: C536194		External references: 1 OMIM reference - 1 MeSH reference: C536195


COMMON SIGNS	- Aortic dilatation / dilation - Aortic dissection - Autosomal dominant inheritance - Bladder / vesical diverticulum - Bruisability - Chronic arterial hypertension - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Herniae - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Oral synechiae / abnormal frenulae - Pectus carinatum - Pectus excavatum - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin hypoplasia / aplasia / atrophy - Skin tumors / lumps / epidermal cysts - Thin skin - Umbilical hernia - Varices / varicous veins / venous insufficiency

Ehlers-Danlos syndrome type 1		Ehlers-Danlos syndrome type 2
	Very frequent - Joint dislocation / subluxation Frequent - Genu recurvatum - Hallux valgus - Scoliosis Occasional - Cardiac valvulopathy - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly		Very frequent - Hyperelastic skin / cutaneous hyperlaxity