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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 7A

COL7A1 COL1A1


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 7A
COL1A1



Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 7A

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

Synonym(s):
- EDS VIIA

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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: -
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 -
No MeSH references


COMMON
SIGNS
- Thin skin


Transient bullous dermolysis of the newborn
Ehlers-Danlos syndrome type 7A

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

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



Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Autosomal dominant inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism