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1 OMIM reference -
3 associated genes
12 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
1 OMIM reference -
5 associated genes
18 signs/symptoms
Carney-Stratakis syndrome
Gastrointestinal stromal tumor

SDHB KIT
SDHC PDGFRA
SDHD SDHA
SDHB
SDHC


COMMON
GENES
SDHB
SDHC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SDHD
(0.59)
SDHC



Citations in the biomedical literature:


Carney-Stratakis syndrome
SDHB SDHC SDHD
Gastrointestinal stromal tumor
KIT PDGFRA SDHA



Carney-Stratakis syndrome
Gastrointestinal stromal tumor

Synonym(s):
- Carney dyad
- Carney-Stratakis dyad
- GIST-paraganglioma dyad
- Paraganglioma and gastric stromal sarcoma

Synonym(s):
- GIST

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046152


COMMON
SIGNS
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Intestinal perforation
- Sarcoma


Carney-Stratakis syndrome
Gastrointestinal stromal tumor

Very frequent
- Autosomal dominant inheritance
- Pheochromocytoma / paraganglioma

Frequent
- Acute abdominal pain / colic
- Cranial nerves palsy
- Hearing loss / hypoacusia / deafness
- Tinnitus



Frequent
- Asthenia / fatigue / weakness
- Constipation
- 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