TaoMedAI/RareMedData huggingface dataset:
Gene: SDHA
Phenotype: Myalgia (HP:0003326)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Dysphagia (HP:0002015)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Limb ataxia (HP:0002070)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Postural instability (HP:0002172)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Stress/infection-induced lactic acidosis (HP:0004897)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Severe short stature (HP:0003510)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Frequent falls (HP:0002359)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Vertigo (HP:0002321)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Headache (HP:0002315)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Motor deterioration (HP:0002333)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Clumsiness (HP:0002312)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Diplopia (HP:0000651)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Anemia (HP:0001903)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Irritability (HP:0000737)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Dementia (HP:0000726)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Skin rash (HP:0000988)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Sarcoma (HP:0100242)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Fatigue (HP:0012378)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Fatigue (HP:0012378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHA
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHA
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Loss of voice (HP:0001686)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SDHA
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Gene: SDHA
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Gene: SDHA
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Gene: SDHA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)