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Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Peutz-Jeghers syndrome

PTEN
(UniProt - OMIM)
 STK11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTEN
(0.67)
STK11


Citations in the biomedical literature:


Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN
Peutz-Jeghers syndrome
STK11



Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Peutz-Jeghers syndrome

Synonym(s):
- SOLAMEN syndrome
Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D010580
COMMON
SIGNS 		- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Peutz-Jeghers syndrome

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Talipes-varus / metatarsal varus
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)


Very frequent
- Abnormal pigmentation of the oral mucosa / gingivae
- 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
- 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
- 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