Peutz-Jeghers Syndrome

A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

Also Known As:

Polyposis, Hamartomatous Intestinal; Polyps-and-Spots Syndrome; Syndrome, Peutz-Jeghers; Lentiginosis, Perioral; Periorificial Lentiginosis Syndrome; Peutz-Jegher's Syndrome; Peutz-Jeghers Polyposis; Hamartomatous Intestinal Polyposes; Hamartomatous Intestinal Polyposis; Intestinal Polyposes, Hamartomatous; Intestinal Polyposis, Hamartomatous; Lentiginoses, Perioral; Perioral Lentiginoses; Perioral Lentiginosis; Periorificial Lentiginosis Syndromes; Peutz Jegher's Syndrome; Peutz Jeghers Polyposis; Peutz Jeghers Syndrome; Peutz-Jegher Syndrome; Polyposes, Hamartomatous Intestinal; Polyposis, Peutz-Jeghers; Polyps and Spots Syndrome; Polyps-and-Spots Syndromes; Syndrome, Periorificial Lentiginosis; Syndrome, Peutz-Jegher's; Syndrome, Polyps-and-Spots; Syndromes, Periorificial Lentiginosis; Syndromes, Polyps-and-Spots

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Peutz-Jeghers Syndrome: 338
Digestive System Diseases: 1042
- Gastrointestinal Diseases: 5874
  - Intestinal Diseases: 1601
    - Intestinal Polyposis: 134
      - Peutz-Jeghers Syndrome: 338
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Peutz-Jeghers Syndrome: 338
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hyperpigmentation: 3268
      - Melanosis: 1899
        Lentigo: 483
        Peutz-Jeghers Syndrome: 338

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