Orphanet: Nephrotic syndrome deafness pretibial epidermolysis bullosa syndrome
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Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome

Disease definition

Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.

ORPHA:300333

Classification level: Disorder
  • Synonym(s):
    • Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent
  • ICD-10: -
  • OMIM: 609057
  • UMLS: C1836823
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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