Mitochondria Phenome Knowledgebase

Gene Symbol SDHD
Ensembl ID ENSG00000204370 Entrez 6392
Gene Alias CBT1; PGL; PGL1; SDH4 Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 11q23 Subcell PMIDs 9533030
OMIM Gene 602690 Protein Complex Respiratory chain complex II (RCCII); Tricarboxylic acid cycle (TCA)
Swissprot ID O14521 Swissprot Description Succinate dehydrogenase [ubiquinone] cytochrome B small subunit, mitochondrial precursor
OMIM Disease Intestinal carcinoid tumors [114900]; Paragangliomas 1 (PGL1) [168000]; Pheochromocytoma [171300]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
SDHD 114900 Neoplasms oncologic #12007193
SDHD 168000 Neoplasms oncologic #11156372 #11323050 #11343322 #11391796 #11391798 #11526495 #11605159 #12114404 #12218630 #12509798 #12782822 #12811540 #15032977 #15066320 #15365827 #15531530 #15762191 #16314641 #16317055
SDHD 171300 Neoplasms oncologic #11156372 #12000816
SDHD 168000 Connective-and-soft-tissue-neoplasms oncologic #12811540
SDHD 168000 Muscle-tissue-neoplasm oncologic #12811540
SDHD 168000 Leiomyoma nonparaganglionic tumors; uterine fibroids oncologic 12811540
SDHD 114900 Neuroectodermal-tumors oncologic #12007193
SDHD 168000 Neuroectodermal-tumors oncologic #11156372 #11323050 #11343322 #11391796 #11391798 #11526495 #11605159 #12114404 #12218630 #12509798 #12782822 #12811540 #15032977 #15066320 #15365827 #15531530 #15762191 #16314641 #16317055
SDHD 171300 Neuroectodermal-tumors oncologic #11156372 #12000816
SDHD 114900 Neuroendocrine-tumors oncologic #12007193
SDHD 168000 Neuroendocrine-tumors oncologic #11156372 #11323050 #11343322 #11391796 #11391798 #11526495 #11605159 #12114404 #12218630 #12509798 #12782822 #12811540 #15032977 #15066320 #15365827 #15531530 #15762191 #16314641 #16317055
SDHD 171300 Neuroendocrine-tumors oncologic #11156372 #12000816
SDHD 114900 Carcinoid-tumor carcinoid; appendiceal; ileal; intestinal; gastrointestinal; midgut carcinoids oncologic 12007193
SDHD 114900 Merkel-cell-carcinoma primary neuroendocrine carcinoma; trabecular carcinoma; skin oncologic 12007193
SDHD 168000 Paraganglioma multiple; head; neck; head and neck paragangliomas; abdominal; carotid body tumors; extra adrenal sympathetic ganglia paragangliomas; glomus tumors; cauda equina tumor; cerebellar tumor; mediastinal paraganglioma; glomus tympanicum tumor; endolaryngeal glomus tumor; parasympathetic paraganglioma; PGL oncologic 11156372 11323050 11343322 11391796 11391798 11526495 11605159 12114404 12218630 12509798 12782822 12811540 15032977 15066320 15365827 15531530 15762191 16314641 16317055
SDHD 168000 Pheochromocytoma glomus jugularis; adrenal medulla pheochromocytomas; medullary paraganglioma; mediastinal tumor; catecholamine secreting paraganglioma oncologic 11156372 11323050 11605159 12782822 12811540 15365827 15762191 16314641 16317055
SDHD 171300 Pheochromocytoma isolated pheochromocytomas; bilateral oncologic 11156372 12000816
SDHD 168000 Digestive-system-neoplasms oncologic #15531530 #16317055
SDHD 168000 Colorectal-neoplasms colon adenocarcinoma; adenocarcinoma; colon cancer oncologic 15531530 16317055
SDHD 168000 Digestive-system-diseases gastrointestinal #11526495 #12218630 #15365827
SDHD 168000 Gastrointestinal-diseases gastrointestinal #12218630
SDHD 168000 Deglutition-disorders dysphagia gastrointestinal 12218630
SDHD 168000 Abdominal-pain recurrent gastrointestinal 15365827
SDHD 168000 Vomiting recurrent vomiting; nausea gastrointestinal 11526495 15365827
SDHD 168000 Nervous-system-diseases neurologic #11343322 #11391796 #11526495 #12114404 #12218630 #12509798 #12782822 #16317055
SDHD 168000 Central-nervous-system-diseases neurologic #11526495 #12782822 #16317055
SDHD 168000 Brain-diseases neurologic #12782822 #16317055
SDHD 168000 Cerebrovascular-disorders stroke neurologic 12782822
SDHD 168000 Headache-disorders headache neurologic 16317055
SDHD 168000 Neuronal-loss-and-lesions MRI findings; cerebellar lesions; cystic lesions; cerebellar lesions neurologic 11526495
SDHD 168000 Cranial-nerve-diseases tumor related; hypoglossal nerve palsy; tongue atrophy; cranial nerve palsy; cranial nerve damage neurologic 11343322 12114404 12218630 12509798 12782822 #16317055
SDHD 168000 Vocal-cord-paralysis vocal cord paresis; vocal cord palsy neurologic 12509798 16317055
SDHD 168000 Neurologic-manifestations neurologic #11343322 #11391796 #11526495 #12114404 #12218630 #12509798 #16317055
SDHD 168000 Ataxia ataxic gait neurologic 11526495
SDHD 168000 Neurobehavioral-manifestations neurologic #12509798
SDHD 168000 Consciousness-disorders loss of consciousness neurologic 12509798
SDHD 168000 Hearing-disorders deafness; hearing loss; sensorineural; tumor related; hypoacousia neurologic 11343322 11391796 12114404 12218630 12509798 16317055
SDHD 168000 Tinnitus pulsatile tinnitus; hearing loss or tinnitus neurologic 11391796 12218630 12509798
SDHD 168000 Voice-disorders deep voice; hoarseness; tumor related hoarseness; dysphonia neurologic 12114404 16317055
SDHD 168000 Cardiovascular-diseases cardiovascular #11156372 #11605159 #12114404 #12509798 #12782822 #15365827 #15762191 #16317055
SDHD 168000 Heart-diseases cardiovascular #12114404 #12509798
SDHD 168000 Arrhythmia tachycardia; transitory tachycardia; bradycardia cardiovascular 12114404 12509798
SDHD 168000 Vascular-diseases cardiovascular #11156372 #11605159 #12782822 #15365827 #15762191 #16317055
SDHD 168000 Hypertension hypertonia; blood pressure increased; hypertensive crisis cardiovascular 11156372 11605159 12782822 15365827 15762191 16317055
SDHD 168000 Hematologic-diseases hematologic #11343322
SDHD 168000 Leukocyte-disorders hematologic #11343322
SDHD 168000 Leukopenia neutropenia; benign; familial neutropenia; reactive monocytosis hematologic 11343322
SDHD 168000 Endocrine-system-diseases endocrinologic #16314641 #16317055
SDHD 168000 Adrenal-gland-diseases endocrinologic #16314641 #16317055
SDHD 168000 Adrenal-gland-neoplasms pheochromocytoma of the adrenal gland endocrinologic 16314641 16317055
SDHD 168000 Thyroid-diseases endocrinologic #16317055
SDHD 168000 Goiter multinodular; multinodular goiter; graves disease endocrinologic 16317055
SDHD 168000 Cachexia weight loss miscellaneous 15365827
SDHD 168000 Altitude-dependence altitude related tumor penetrance; oxygen sensing related phenotype miscellaneous 12811540
SDHD 168000 Catecholamine-levels-abnormal catecholamine secreting paraganglioma; metanephrines elevated; metanephrinuria; noradrenaline elevated miscellaneous 11156372 11605159 12782822 15365827 15762191 16317055
SDHD 168000 RCCII-deficiency pheochromocytoma; complete and selective loss of complex II electron transfer activity miscellaneous 11605159

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