Cytoscape Web
Click node...


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

SDHA SDHB
SDHAF1 SDHC
SDHB SDHD
SDHD


COMMON
GENES
SDHB
SDHD


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Isolated succinate-CoQ reductase deficiency
Carney-Stratakis syndrome

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

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

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
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
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)