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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01222 | Cowden syndrome | ... 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD. | Congenital malformation |
(CWS1) PTEN [HSA:5728] [KO:K01110] (CWS2) SDHB [HSA:6390] [KO:K00235] (CWS3) SDHD [HSA:6392] [KO:K00237] (CWS4) KLLN [HSA:100144748] [KO:K23389] (CWS5) PIK3CA [HSA:5290] [KO:K00922] (CWS6) AKT1 [HSA:207] [KO:K04456] (CWS7) SEC23B [HSA:10483] [KO:K14006] |
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| H01510 |
Malignant paraganglioma Pheochromocytoma |
Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01591 | Gastrotintestinal stromal tumor | Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% ... | Cancer |
(GIST) KIT [HSA:3815] [KO:K05091] (GIST) SDHB [HSA:6390] [KO:K00235] (GIST) SDHC [HSA:6391] [KO:K00236] (GISTPS) PDGFRA [HSA:5156] [KO:K04363] |
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| H02005 |
Mitochondrial complex II deficiency Succinate dehydrogenase deficiency Succinate CoQ reductase deficiency |
... the TCA cycle and in the mitochondrial electron transport chain (ETC). Four structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded ... | Inherited metabolic disorder, Mitochondrial disease |
(MC2DN1) SDHA [HSA:6389] [KO:K00234] (MC2DN2) SDHAF1 [HSA:644096] [KO:K18167] (MC2DN3) SDHD [HSA:6392] [KO:K00237] (MC2DN4) SDHB [HSA:6390] [KO:K00235] |
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| H02538 | Paraganglioma | Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly ... | Neoplasm |
(PGL1) SDHD [HSA:6392] [KO:K00237] (PGL2) SDHAF2 [HSA:54949] [KO:K18168] (PGL3) SDHC [HSA:6391] [KO:K00236] (PGL4) SDHB [HSA:6390] [KO:K00235] (PGL5) SDHA [HSA:6389] [KO:K00234] (PGL6) SLC25A11 [HSA:8402] [KO:K15104] (PGL7) DLST [HSA:1743] [KO:K00658] |
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