Pierson syndrome

A hereditary autosomal recessive disorder characterized by congenital nephrotic syndrome with diffuse SCLEROSIS of the GLOMERULAR MESANGIUM and distinct ocular abnormalities, including microcoria (narrowing of the pupil) and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die in infancy, and those who survive tend to show neurodevelopmental delay and visual loss. Mutations in the LAMB2 gene have been identified. OMIM: 150325

Also Known As:

Microcoria and congenital nephrotic syndrome; Microcoria-Congenital Nephrotic Syndrome; Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome

Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Nephrosis: 1810
      - Nephrotic Syndrome: 9808
        Pierson syndrome: 42
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Nephrosis: 1810
        Nephrotic Syndrome: 9808
        Pierson syndrome: 42
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Nephrosis: 1810
        Nephrotic Syndrome: 9808
        Pierson syndrome: 42
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Pupil Disorders: 166
    - Pierson syndrome: 42
- Neuromuscular Diseases: 2005
  - Neuromuscular Junction Diseases: 83
    - Congenital Myasthenic Syndromes: 467
      - Pierson syndrome: 42
Eye Diseases: 3522
- Pupil Disorders: 166
  - Pierson syndrome: 42
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Pupil Disorders: 166
      - Pierson syndrome: 42
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Congenital Myasthenic Syndromes: 467
    - Pierson syndrome: 42

Laurie Seaver Selected Research

Laurie Seaver Research Topics

Disease

Drug/Important Bio-Agent (IBA)