ODCs

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1 OMIM reference -
5 associated genes
5 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
15 signs/symptoms

Generalized junctional epidermolysis bullosa, non-Herlitz type

LOC syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMB3 LAMC2	(0.65) (0.52)	LAMA3 LAMA3

Citations in the biomedical literature:

Generalized junctional epidermolysis bullosa, non-Herlitz type		LOC syndrome
	Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type		Synonym(s): - LOGIC syndrome - Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome - Laryngo-onycho-cutaneous syndrome - Shabbir syndrome

	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 odontologic disease - Rare respiratory 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 fingernails - Abnormal toenails - Anomalies of teeth and dentition

Generalized junctional epidermolysis bullosa, non-Herlitz type		LOC syndrome
	Very frequent - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal pigmentation of the oral mucosa / gingivae - Absent / small fingernails / anonychia of hands - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Corneal clouding / opacity / vascularisation - Death in infancy - Enamel anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction