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Ovarioleukodystrophy
1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
Ovarioleukodystrophy
Peutz-Jeghers syndrome

EIF2B1
(UniProt - OMIM)
 STK11
(UniProt - OMIM)
EIF2B2
(UniProt - OMIM)
EIF2B3
(UniProt - OMIM)
EIF2B4
(UniProt - OMIM)
EIF2B5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EIF2B1
(0.68)
STK11


Citations in the biomedical literature:


Ovarioleukodystrophy
EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
Peutz-Jeghers syndrome
STK11



Ovarioleukodystrophy
Peutz-Jeghers syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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):
- Endocrine, nutritional and metabolic diseases -
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D010580
Peutz-Jeghers syndrome

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


Ovarioleukodystrophy

(no data available)