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Generalized junctional epidermolysis bullosa, non-Herlitz type

1 OMIM reference -
5 associated genes
71 connected diseases
5 signs/symptoms

Disease	Type of connection
Junctional epidermolysis bullosa, Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Epidermolysis bullosa simplex with pyloric atresia
Hypoplastic amelogenesis imperfecta
LOC syndrome
Junctional epidermolysis bullosa inversa
Late-onset junctional epidermolysis bullosa
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
Giant cell glioblastoma
Gliosarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Autosomal dominant macrothrombocytopenia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
APC-related attenuated familial adenomatous polyposis
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Desmoid tumor
Erythrocyte galactose epimerase deficiency
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Generalized galactose epimerase deficiency
Spinocerebellar ataxia type 1
Turcot syndrome with polyposis
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Cobblestone lissencephaly without muscular or ocular involvement
Hypoplasminogenemia
LAMB-2-related infantile-onset nephrotic syndrome
Ligneous conjunctivitis
Nodulosis-arthropathy-osteolysis syndrome
Pierson syndrome
Pulverulent cataract
Synaptic congenital myasthenic syndromes
Torg-Winchester syndrome
Naxos disease

Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
COL17A1	Q9UMD9	113811
ITGB4	P16144	147557
LAMA3	Q16787	600805
LAMB3	Q13751	150310
LAMC2	Q13753	150292

Very frequent

- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent

- Abnormal fingernails
- Abnormal toenails

Occasional

- Anomalies of teeth and dentition