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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
18 signs/symptoms
Familial progressive hyper- and hypopigmentation
Gastrointestinal stromal tumor

KITLG KIT
PDGFRA
SDHA
SDHB
SDHC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KITLG
(0.9)
KIT



Citations in the biomedical literature:


Familial progressive hyper- and hypopigmentation
KITLG
Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC



Familial progressive hyper- and hypopigmentation
Gastrointestinal stromal tumor

Synonym(s):
- FPHH

Synonym(s):
- GIST

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
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:
No 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


Familial progressive hyper- and hypopigmentation

(no data available)