ODCs

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Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Recessive dystrophic epidermolysis bullosa inversa

1 OMIM reference -
1 associated gene
30 signs/symptoms

Ehlers-Danlos syndrome type 1

Recessive dystrophic epidermolysis bullosa inversa

COL1A1	(UniProt - OMIM)	COL7A1	(UniProt - OMIM)
COL5A1	(UniProt - OMIM)
COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.75)	COL7A1

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Recessive dystrophic epidermolysis bullosa inversa
	Synonym(s): - EDS I		Synonym(s): - Dystrophic epidermolysis bullosa inversa - Inverse RDEB - Inverse recessive dystrophic epidermolysis bullosa - RDEB-I

	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 developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536194		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Skin hypoplasia / aplasia / atrophy

Ehlers-Danlos syndrome type 1		Recessive dystrophic epidermolysis bullosa inversa
	Very frequent - Autosomal dominant inheritance - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Thin skin Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Ankyloglossia / lingual synechiae - Autosomal recessive inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Follicular / erythematous / edematous papules / milium - Oral mucosa disease / cheilitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal toenails - Anaemia - Corneal ulceration / perforation - External auditory canal atresia / stenosis / agenesis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional anomalies of the genital system - Hearing loss / hypoacusia / deafness - Joint / articular deformation - Microstomia / little mouth - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Occasional - Anus / rectum anomalies - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Constipation - Failure to thrive / difficulties for feeding in infancy / growth delay - Renal disease / nephropathy - Renal failure - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Weight loss / loss of appetite / break in weight curve / general health alteration