Pheochromocytoma/paraganglioma Syndrome 4 (PPGL4)

Alias:
Paragangliomas 4
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas
Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma
Paragangliomas, Hereditary Extraadrenal
Pheochromocytoma, Familial Extraadrenal
Paraganglioma, Familial Malignant
Pgl4
Pheochromocytoma Extraadrenal and Cervical Paraganglioma
Paragangliomas Hereditary Extraadrenal
Pheochromocytoma Familial Extraadrenal
Paraganglioma, Familial Chromaffin, 4
Familial Chromaffin Paraganglioma 4
Paraganglioma Familial Malignant
Paragangliomas, Type 4
Ppgl4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pheochromocytoma/paraganglioma Syndrome 4, also known as paragangliomas 4, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma. An important gene associated with Pheochromocytoma/paraganglioma Syndrome 4 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B), and among its related pathways/superpathways are glycolysis (BioCyc) and Pyruvate metabolism. Affiliated tissues include kidney and spinal cord, and related phenotypes are neuroblastoma and gastrointestinal stroma tumor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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2
14
214

Medical Symptom

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

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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