Pheochromocytoma/paraganglioma Syndrome 1 (PPGL1)

Alias:
Paragangliomas 1
Glomus Jugulare Tumors
Carotid Body Tumors
Carotid Body Tumor
Paragangliomata
Chemodectomas
Paragangliomas, Familial Nonchromaffin, 1
Paragangliomas, Familial, 1
Paraganglioma, Carotid Body
Glomus Tumors, Familial, 1
Carotid Body Paraganglioma
Glomus Jugulare Tumor
Pgl1
Cbt1
Pgl
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness
Familial Non-Chromaffin Paragangliomas 1
Extra-Adrenal Paraganglioma
Paraganglioma Carotid Body
Paragangliomas Familial 1
Glomus Tumors Familial 1
Glomus Tympanicum Tumor
Paragangliomas, Type 1
Paraganglioma
Chemodectoma
Glomus Tumor
Ppgl1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pheochromocytoma/paraganglioma Syndrome 1, also known as paragangliomas 1, is related to pheochromocytoma/paraganglioma syndrome 4 and persistent generalized lymphadenopathy, and has symptoms including aphonia An important gene associated with Pheochromocytoma/paraganglioma Syndrome 1 is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Phenoxybenzamine and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and thyroid, and related phenotypes are adrenal pheochromocytoma and extraadrenal pheochromocytoma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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4
24
68

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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