Požymiai

Su SDHA susiję požymiai

succinate dehydrogenase complex flavoprotein subunit A

Žmogaus fenotipo ontologija sieja 190 požymių su SDHA, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Headache	Visada
Inability to coordinate movements when walking	Visada
Instability or lack of coordination of central trunk muscles	Visada
Loss of developmental milestones	Visada
Unsteady walk	Visada
Abnormal gait	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Babinski sign	Dažnai (30–79%)
Balance impairment	Dažnai (30–79%)
Brisk knee jerk	Dažnai (30–79%)
Clumsiness	Dažnai (30–79%)
Cranial nerve paralysis	Dažnai (30–79%)
Degeneration of cerebellum	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Dysesthesia	Dažnai (30–79%)
Episodic paroxysmal anxiety	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Hyperactive deep tendon reflexes	Dažnai (30–79%)
Limb ataxia	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Progressive degeneration of movement	Dažnai (30–79%)
Progressive psychomotor deterioration	Dažnai (30–79%)
Recurrent paroxysmal headache	Dažnai (30–79%)
Upper limb hyperreflexia	Dažnai (30–79%)
Communication delay	Kartais (5–29%)
Cranial nerve compression	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Focal myoclonic seizure	Kartais (5–29%)
Inability to move vocal cords	Kartais (5–29%)
Irritability	Kartais (5–29%)
Moderate global developmental delay	Kartais (5–29%)
Panic attack	Kartais (5–29%)
Tremor	Kartais (5–29%)
Dementia	Retai (1–4 %)
Loss of ability to walk	Retai (1–4 %)
Cognitive impairment	Neužfiksuota
Dystonia	Neužfiksuota
Increased reflexes	Neužfiksuota
Jerking	Neužfiksuota
Leukoencephalopathy	Neužfiksuota
Progressive leukoencephalopathy	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Disease of the heart muscle	Visada
Enlarged heart	Visada
Reduced left ventricular ejection fraction	Visada
Stretched and thinned heart muscle	Visada
Left ventricular systolic dysfunction	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Abnormal left ventricular function	Dažnai (30–79%)
Abnormality of the cardiovascular system	Dažnai (30–79%)
Cardiac failure	Dažnai (30–79%)
Decrease in blood pressure upon standing up	Dažnai (30–79%)
Elevated heart rate	Dažnai (30–79%)
Enlarged and thickened heart muscle	Dažnai (30–79%)
Fainting spell	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Hypertension associated with pheochromocytoma	Dažnai (30–79%)
Hypertensive retinopathy	Dažnai (30–79%)
Left ventricular hypertrophy	Dažnai (30–79%)
Left ventricular noncompaction	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Positive regitine blocking test	Dažnai (30–79%)
Sinus tachycardia	Dažnai (30–79%)
Swollen lymph nodes in center of chest	Dažnai (30–79%)
Abnormal atrioventricular conduction	Kartais (5–29%)
Arachnoid hemangiomatosis	Kartais (5–29%)
Cardiogenic shock	Kartais (5–29%)
Hypertensive crisis	Kartais (5–29%)
Inflammation of heart muscle	Kartais (5–29%)
Noncompaction cardiomyopathy	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Diarrhea	Labai dažnai (80–99%)
Gastrointestinal stroma tumor	Labai dažnai (80–99%)
Nausea and vomiting	Labai dažnai (80–99%)
Stomach tumor	Labai dažnai (80–99%)
Accumulation of fluid in the abdomen	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Intermittent abdominal pain	Dažnai (30–79%)
Intestinal obstruction	Dažnai (30–79%)
Nausea	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Abdominal mass	Kartais (5–29%)
Abnormality of the liver	Kartais (5–29%)
Anorexia	Kartais (5–29%)
Colon tumor	Kartais (5–29%)
Esophageal tumor	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Gastrointestinal tract tumor	Kartais (5–29%)
Rectal tumor	Kartais (5–29%)
Small intestine tumor	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Distal muscle wasting	Dažnai (30–79%)
Generalized muscle weakness	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Proximal neurogenic muscle weakness	Dažnai (30–79%)
Skeletal myopathy	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
EMG abnormality	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Loss of fat tissue in localized area	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Spastic paraparesis	Kartais (5–29%)
Spastic tetraparesis	Kartais (5–29%)
Poor head control	Retai (1–4 %)
Flexed joint that cannot be straightened	Neužfiksuota
Low muscle tone, in neonatal onset	Neužfiksuota
Muscle weakness	Neužfiksuota
Ragged-red muscle fibers	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
3-Methylglutaconic aciduria	Visada
Elevated lactate:pyruvate ratio	Visada
Higher than normal levels of lactate in blood	Visada
Increased hepatic glycogen content	Visada
Elevated urinary dopamine	Dažnai (30–79%)
Elevated urinary epinephrine level	Dažnai (30–79%)
Elevated urinary norepinephrine level	Dažnai (30–79%)
Fluid retention	Dažnai (30–79%)
High blood calcium levels	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Blood in urine	Kartais (5–29%)
Elevated calcitonin	Kartais (5–29%)
High blood sugar	Kartais (5–29%)
Increased intramyocellular lipid droplets	Neužfiksuota
Stress/infection-induced lactic acidosis	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Double vision	Visada
Loss of peripheral vision	Visada
Optic atrophy	Visada
Visual impairment	Visada
Abnormality of the eye	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Gaze-evoked nystagmus	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Absent iris	Retai (1–4 %)
Blindness	Retai (1–4 %)
Paralysis or weakness of muscles within or surrounding outer part of eye	Retai (1–4 %)
Pigmentary retinopathy	Retai (1–4 %)
Drooping upper eyelid	Neužfiksuota
Eye muscle paralysis	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Visada
Hearing impairment	Dažnai (30–79%)
Paroxysmal vertigo	Dažnai (30–79%)
Pulsatile tinnitus	Dažnai (30–79%)
Ringing in ears	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Paraganglioma	Visada
Adrenal pheochromocytoma	Labai dažnai (80–99%)
Extraadrenal pheochromocytoma	Labai dažnai (80–99%)
Pheochromocytoma	Labai dažnai (80–99%)
Adrenal overactivity	Dažnai (30–79%)
Adrenocortical adenoma	Dažnai (30–79%)
Paraganglioma of head and neck	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Proportionate short stature	Dažnai (30–79%)
Severe short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)
Short stature	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Gastrointestinal bleeding	Labai dažnai (80–99%)
Bleeding in brain	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Kartais (5–29%)
Thromboembolic stroke	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Glomerular sclerosis	Dažnai (30–79%)
Cancer starting in small tubes in kidneys	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Vesicoureteral reflux	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Flushing	Dažnai (30–79%)
Sporadic excessive sweating	Dažnai (30–79%)
Irregular hyperpigmentation	Kartais (5–29%)
Paleness	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Labai dažnai (80–99%)
Exertional breathlessness	Dažnai (30–79%)
Lung infiltrates	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)
Muscle ache	Dažnai (30–79%)
Decreased ability to exercise	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Limb muscle weakness	Visada
Inability to straighten knee	Kartais (5–29%)
Lower limb hypertonia	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex II	Visada
Abnormal mitochondria in muscle tissue	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of connective tissue	Labai dažnai (80–99%)
Leiomyosarcoma	Labai dažnai (80–99%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Mild microcephaly	Kartais (5–29%)
Retinal capillary hemangioma	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	Dažnai (30–79%)
Loss of voice	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Skin rash	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SDHA susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test