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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
3 associated genes
29 signs/symptoms
Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 1

COL7A1 COL1A1
COL5A1
COL5A2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Transient bullous dermolysis of the newborn
COL7A1
Ehlers-Danlos syndrome type 1
COL1A1 COL5A1 COL5A2



Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 1

Synonym(s):
- DEB, bullous dermolysis of the newborn
- DEB-BDN

Synonym(s):
- EDS I

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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:
1 OMIM reference -
1 MeSH reference: C536979
External references:
1 OMIM reference -
1 MeSH reference: C536194


COMMON
SIGNS
- Thin skin


Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 1

Very frequent
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Oral mucosa disease / cheilitis



Very frequent
- Autosomal dominant inheritance
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Skin hypoplasia / aplasia / atrophy

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