ODCs

Click node...

Generalized junctional epidermolysis bullosa, non-Herlitz type

1 OMIM reference -
5 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

Recessive dystrophic epidermolysis bullosa inversa

1 OMIM reference -
1 associated gene
30 signs/symptoms

Generalized junctional epidermolysis bullosa, non-Herlitz type

Recessive dystrophic epidermolysis bullosa inversa

COL17A1	(UniProt - OMIM)	COL7A1	(UniProt - OMIM)
ITGB4	(UniProt - OMIM)
LAMA3	(UniProt - OMIM)
LAMB3	(UniProt - OMIM)
LAMC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMB3 LAMC2	(0.76) (0.76)	COL7A1 COL7A1

Citations in the biomedical literature:

Generalized junctional epidermolysis bullosa, non-Herlitz type		Recessive dystrophic epidermolysis bullosa inversa
	Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type		Synonym(s): - Dystrophic epidermolysis bullosa inversa - Inverse RDEB - Inverse recessive dystrophic epidermolysis bullosa - RDEB-I

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Abnormal toenails - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Generalized junctional epidermolysis bullosa, non-Herlitz type		Recessive dystrophic epidermolysis bullosa inversa
	Very frequent - Nails anomalies Frequent - Abnormal fingernails Occasional - Anomalies of teeth and dentition		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Ankyloglossia / lingual synechiae - Autosomal recessive inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Follicular / erythematous / edematous papules / milium - Oral mucosa disease / cheilitis - Skin hypoplasia / aplasia / atrophy Frequent - Anaemia - Corneal ulceration / perforation - External auditory canal atresia / stenosis / agenesis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional anomalies of the genital system - Hearing loss / hypoacusia / deafness - Joint / articular deformation - Microstomia / little mouth - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Occasional - Anus / rectum anomalies - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Constipation - Failure to thrive / difficulties for feeding in infancy / growth delay - Renal disease / nephropathy - Renal failure - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Weight loss / loss of appetite / break in weight curve / general health alteration