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Junctional epidermolysis bullosa, Herlitz type
1 OMIM reference -
3 associated genes
31 connected diseases
11 signs/symptoms
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hypoplastic amelogenesis imperfecta
LOC syndrome
Junctional epidermolysis bullosa inversa
Osteogenesis imperfecta type 3
Acral dystrophic epidermolysis bullosa
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
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Erythrocyte galactose epimerase deficiency
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Generalized galactose epimerase deficiency
Turcot syndrome with polyposis
Cobblestone lissencephaly without muscular or ocular involvement
Hypoplasminogenemia
LAMB-2-related infantile-onset nephrotic syndrome
Ligneous conjunctivitis
Nodulosis-arthropathy-osteolysis syndrome
Pierson syndrome
Synaptic congenital myasthenic syndromes
Torg-Winchester syndrome
Synonym(s):
- Epidermolysis bullosa letalis
- JEB-H
- Junctional epidermolysis bullosa generalisata gravis
- Junctional epidermolysis bullosa, Herlitz-Pearson type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LAMA3 Q16787600805
LAMB3 Q13751150310
LAMC2 Q13753150292
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