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1 OMIM reference -
3 associated genes
12 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
Carney-Stratakis syndrome
Isolated succinate-CoQ reductase deficiency

SDHB SDHA
SDHC SDHAF1
SDHD SDHB
SDHD


COMMON
GENES
SDHB
SDHD


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Carney-Stratakis syndrome
SDHB SDHC SDHD
Isolated succinate-CoQ reductase deficiency
SDHA SDHAF1



Carney-Stratakis syndrome
Isolated succinate-CoQ reductase deficiency

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

Synonym(s):
- Isolated mitochondrial respiratory chain complex II deficiency
- Isolated succinate-coenzyme Q reductase deficiency
- Isolated succinate-ubiquinone reductase deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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

Carney-Stratakis syndrome

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



Isolated succinate-CoQ reductase deficiency

(no data available)