ODCs

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1 OMIM reference -
2 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 7

1 OMIM reference -
3 associated genes
11 signs/symptoms

Severe generalized recessive dystrophic epidermolysis bullosa

Junctional epidermolysis bullosa, Herlitz type


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

Citations in the biomedical literature:

Severe generalized recessive dystrophic epidermolysis bullosa		Junctional epidermolysis bullosa, Herlitz type
	Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - RDEB generalisata gravis - RDEB, Hallopeau-Siemens type - RDEB-sev gen - Severe generalized RDEB		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 skin disease		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 -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive		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		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal fingernails - Alopecia - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Syndactyly of fingers / interdigital palm - Syndactyly of toes

Severe generalized recessive dystrophic epidermolysis bullosa		Junctional epidermolysis bullosa, Herlitz type
	Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Abnormal toenails - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Anaemia - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Constipation - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Microstomia / little mouth - Multiple caries - Pruritus / itching - Skin hypoplasia / aplasia / atrophy - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Anomalies of hands - Corneal ulceration / perforation - Foot anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) Occasional - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Ectropion / entropion / eyelid eversion - Mild visual loss / impaired visual acuity - Visual loss / blindness / amblyopia		Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Dehydration / hydroelectrolytic loss - Early death / lethality Occasional - Onycholysis