ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
15 signs/symptoms

Junctional epidermolysis bullosa inversa

LOC syndrome


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

Citations in the biomedical literature:

Junctional epidermolysis bullosa inversa		LOC syndrome
	Synonym(s): - EBJ-I - Inverse JEB - JEB-I		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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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 - Autosomal recessive inheritance

Junctional epidermolysis bullosa inversa		LOC syndrome
	Very frequent - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal pigmentation of the oral mucosa / gingivae - Abnormal toenails - Absent / small fingernails / anonychia of hands - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of teeth and dentition - 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