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Generalized junctional epidermolysis bullosa, non-Herlitz type

1 OMIM reference -
5 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3

Recessive dystrophic epidermolysis bullosa-generalized other

1 associated gene
30 signs/symptoms

Generalized junctional epidermolysis bullosa, non-Herlitz type

Recessive dystrophic epidermolysis bullosa-generalized other

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-generalized other
	Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type		Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis - Autosomal recessive dystrophic epidermolysis bullosa, generalized other - Generalized mitis RDEB - RDEB generalisata mitis - RDEB, non-Hallopeau-Siemens type - RDEB-O - RDEB-generalized other - Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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


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

Generalized junctional epidermolysis bullosa, non-Herlitz type		Recessive dystrophic epidermolysis bullosa-generalized other
	Very frequent - Nails anomalies Occasional - Anomalies of teeth and dentition		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium Frequent - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Constipation - Enanthema / aphtosa / aphta / leukoplakia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Microstomia / little mouth - Multiple caries - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Alopecia - Anaemia - Anomalies of eyelids, eyelashes and lacrimal system - Corneal ulceration / perforation - Cryptophthalmia / ankyloblepharon / synblepharon - Ectropion / entropion / eyelid eversion - Failure to thrive / difficulties for feeding in infancy / growth delay - Hair and scalp anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Skin hypoplasia / aplasia / atrophy - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Visual loss / blindness / amblyopia