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Carney-Stratakis syndrome
1 OMIM reference -
3 associated genes
8 connected diseases
12 signs/symptoms
Disease Type of connection
Cowden syndrome
Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor
Isolated succinate-CoQ reductase deficiency
Carcinoid tumor and carcinoid syndrome
Dedifferentiated liposarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Well-differentiated liposarcoma
Synonym(s):
- Carney dyad
- Carney-Stratakis dyad
- GIST-paraganglioma dyad
- Paraganglioma and gastric stromal sarcoma
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SDHB P21912185470
SDHC Q99643602413
SDHD O14521602690
Very frequent
- Autosomal dominant inheritance
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Pheochromocytoma / paraganglioma
- Sarcoma

Frequent
- Acute abdominal pain / colic
- Cranial nerves palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Intestinal obstruction / ileus
- Intestinal perforation
- Tinnitus