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Entry Name Description Category Pathway Gene
H00034 Carcinoid Carcinoid tumors are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
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]
H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Larsen-like syndrome 		Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations ... Inherited metabolic disorder B3GAT3 [HSA:26229] [KO:K10158]
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]
H02005 Mitochondrial complex II deficiency
Succinate dehydrogenase deficiency
Succinate CoQ reductase deficiency 		... 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. Mutations in SDHA ... 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]
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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