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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

Acral dystrophic epidermolysis bullosa

Ehlers-Danlos syndrome type 1

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


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

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Ehlers-Danlos syndrome type 1
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - EDS I

	Classification (Orphanet): - Rare genetic disease - Rare skin 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Skin hypoplasia / aplasia / atrophy

Acral dystrophic epidermolysis bullosa		Ehlers-Danlos syndrome type 1
	Very frequent - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - 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