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Ehlers-Danlos syndrome type 1
1 OMIM reference -
3 associated genes
68 connected diseases
29 signs/symptoms
Disease Type of connection
Ehlers-Danlos syndrome type 2
Osteogenesis imperfecta type 3
Dermatofibrosarcoma protuberans
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Caffey disease
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Hereditary breast and ovarian cancer syndrome
Congenital stromal corneal dystrophy
Autosomal recessive Stickler syndrome
Fibrochondrogenesis
Marshall syndrome
Stickler syndrome type 2
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Acral dystrophic epidermolysis bullosa
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Kufor-Rakeb syndrome
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Fetal and neonatal alloimmune thrombocytopenia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
CARASIL
Familial pancreatic carcinoma
Familial prostate cancer
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Primary peritoneal carcinoma
Reis-Bücklers corneal dystrophy
Spondylocarpotarsal synostosis
Thiel-Behnke corneal dystrophy
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
IRIDA syndrome
Metaphyseal anadysplasia
Fibronectin glomerulopathy
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Temtamy syndrome
Synonym(s):
- EDS 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 (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
External references:
1 OMIM reference -
1 MeSH reference: C536194
Gene symbol UniProt reference OMIM reference
COL1A1 P02452120150
COL5A1 P20908120215
COL5A2 P05997120190
Very frequent
- Autosomal dominant inheritance
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Skin hypoplasia / aplasia / atrophy
- 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