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PGL7
MCID: PRG138
MIFTS: 18
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Paragangliomas 7 (PGL7)
Categories:
Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Paragangliomas 7:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance adult-onset
Inheritance:
autosomal dominant HPO:31
paragangliomas 7:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Ear diseases Endocrine diseases |
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OMIM® :
57
Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (168000). (618475) (Updated 05-Mar-2021)
MalaCards based summary : Paragangliomas 7, is also known as pgl7. An important gene associated with Paragangliomas 7 is DLST (Dihydrolipoamide S-Succinyltransferase). Related phenotypes are pheochromocytoma and paraganglioma UniProtKB/Swiss-Prot : 73 Paragangliomas 7: An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. PGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. |
Diseases in the Paraganglioma family:
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Human phenotypes related to Paragangliomas 7:31
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Articles related to Paragangliomas 7:
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Genes related to Paragangliomas 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Paragangliomas 7:6
UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 7:73
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Search
GEO
for disease gene expression data for Paragangliomas 7.
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