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4 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Hypoplastic amelogenesis imperfecta
Pretibial dystrophic epidermolysis bullosa

ENAM COL7A1
LAMB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMB3
(0.76)
COL7A1



Citations in the biomedical literature:


Hypoplastic amelogenesis imperfecta
ENAM LAMB3
Pretibial dystrophic epidermolysis bullosa
COL7A1



Hypoplastic amelogenesis imperfecta
Pretibial dystrophic epidermolysis bullosa

Synonym(s):
- Amelogenesis imperfecta type 1

Synonym(s):
- DEB-Pt
- Pretibial DEB

Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
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 dominant

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

Pretibial dystrophic epidermolysis bullosa

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Autosomal dominant inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Follicular / erythematous / edematous papules / milium
- Pruritus / itching

Occasional
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lichen


Hypoplastic amelogenesis imperfecta

(no data available)