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1 OMIM reference -
5 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Gastrointestinal stromal tumor
Parkes Weber syndrome

KIT RASA1
PDGFRA
SDHA
SDHB
SDHC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.83)
RASA1



Citations in the biomedical literature:


Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC
Parkes Weber syndrome
RASA1



Gastrointestinal stromal tumor
Parkes Weber syndrome

Synonym(s):
- GIST

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D046152
External references:
1 OMIM reference -
No MeSH references

Gastrointestinal stromal tumor
Parkes Weber syndrome

Very frequent
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Sarcoma

Frequent
- Asthenia / fatigue / weakness
- Constipation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Intestinal perforation
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Occasional
- Anaemia
- Colon neoplasm / tumor / carcinoma / cancer
- Cutaneous rash
- Digestive neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Hepatitis / icterus / cholestasis
- Irregular / in bands / reticular skin hyperpigmentation
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer


Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Global upper and lower limbs anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Muscle hypertrophy
- Peripheral arteriovenous fistula
- Telangiectasiae of the skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy

Frequent
- Varices / varicous veins / venous insufficiency

Occasional
- Facial pain / cephalalgia / migraine
- Glaucoma
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Vascular anomalies of skin / mucosae