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1 OMIM reference -
3 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Junctional epidermolysis bullosa, Herlitz type
Gardner syndrome

LAMA3 APC
LAMB3
LAMC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMA3
(0.63)
APC



Citations in the biomedical literature:


Junctional epidermolysis bullosa, Herlitz type
LAMA3 LAMB3 LAMC2
Gardner syndrome
APC



Junctional epidermolysis bullosa, Herlitz type
Gardner syndrome

Synonym(s):
- Epidermolysis bullosa letalis
- JEB-H
- Junctional epidermolysis bullosa generalisata gravis
- Junctional epidermolysis bullosa, Herlitz-Pearson type

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D005736

Junctional epidermolysis bullosa, Herlitz type

Very frequent
- Abnormal fingernails
- Autosomal recessive inheritance

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dehydration / hydroelectrolytic loss
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay

Occasional
- Alopecia
- Onycholysis
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes


Gardner syndrome

(no data available)