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Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
45 connected diseases
32 signs/symptoms
Disease Type of connection
B-cell chronic lymphocytic leukemia
Coffin-Siris syndrome
Familial rhabdoid tumor
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Congenital dyserythropoietic anemia type III
Cree leukoencephalopathy
Ovarioleukodystrophy
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Coffin-Lowry syndrome
Combined cervical dystonia
Mantle cell lymphoma
X-linked non-syndromic intellectual deficit
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Cerebellar ataxia - hypogonadism
EEC syndrome
Ewing sarcoma
Limb-mammary syndrome
Split hand-split foot malformation
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D010580
Gene symbol UniProt reference OMIM reference
STK11 Q15831602216
Very frequent
- Abnormal pigmentation of the oral mucosa / gingivae
- Autosomal dominant inheritance
- Digestive neoplasm / tumor / carcinoma / cancer
- Macules
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia

Occasional
- Abnormal nails colour / leukonychia / melanonychia
- Acute abdominal pain / colic
- Anaemia
- Anus / rectum anomalies
- Bladder and ureter anomalies
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrahepatic biliary tract / gallbladder neoplasm / tumor / carcinoma / cancer
- Head and neck neoplasm / tumor / carcinoma / cancer
- Intestinal obstruction / ileus
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Mesenteric / intestinal infarction
- Nasal polyposis
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer