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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
18 signs/symptoms
MODY syndrome
Gastrointestinal stromal tumor

ABCC8 KIT
BLK PDGFRA
CEL SDHA
GCK SDHB
HNF1A SDHC
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BLK
(0.72)
KIT



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC



MODY syndrome
Gastrointestinal stromal tumor

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
- GIST

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

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

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

Gastrointestinal stromal tumor

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


MODY syndrome

(no data available)