ODCs

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1 OMIM reference -
5 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Generalized junctional epidermolysis bullosa, non-Herlitz type

Pierson syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMA3	(0.52)	LAMB2

Citations in the biomedical literature:

Generalized junctional epidermolysis bullosa, non-Herlitz type		Pierson syndrome
	Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type		Synonym(s): - Microcoria - congenital nephrosis

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the genitourinary system -

	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 - 1 MeSH reference: C537185

Generalized junctional epidermolysis bullosa, non-Herlitz type		Pierson syndrome
	Very frequent - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Abnormal toenails Occasional - Anomalies of teeth and dentition		Very frequent - Autosomal recessive inheritance - Cataract / lens opacification - Chronic arterial hypertension - EEG anomalies - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia - Movement disorder - Nephrotic syndrome - Nystagmus - Proteinuria Frequent - Micropenis / small penis / agenesis