Paraganglioma and Gastric Stromal Sarcoma (PGGSS)

Alias:
Carney-Stratakis Syndrome
Paraganglioma and Gastrointestinal Stromal Tumor
Gist-Paraganglioma Dyad
Carney-Stratakis Dyad
Carney Dyad
Paraganglioma, Gastric Stromal Sarcoma
Gastrointestinal Stromal Tumors
Pggss
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to pheochromocytoma/paraganglioma syndrome 4 and hereditary paraganglioma-pheochromocytoma syndromes. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glucose / Energy Metabolism. The drugs Midazolam and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are gastrointestinal stroma tumor and paraganglioma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
26
430
95

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top