Požymiai

Su SDHB susiję požymiai

succinate dehydrogenase complex iron sulfur subunit B

Žmogaus fenotipo ontologija sieja 161 požymį su SDHB: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed ability to stand	Visada
Delayed ability to walk	Visada
Elevated brain lactate level by MRS	Visada
Falls	Visada
Hyperintensity of cerebral white matter on MRI	Visada
Increased reflexes	Visada
Irritability	Visada
Leukodystrophy	Visada
Loss of developmental milestones	Visada
Ataxia	Dažnai (30–79%)
Babinski sign	Dažnai (30–79%)
Brisk knee jerk	Dažnai (30–79%)
Cranial nerve paralysis	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
Episodic paroxysmal anxiety	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Hyperactive deep tendon reflexes	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%)
Cancer of early nerve cells	Kartais (5–29%)
Communication delay	Kartais (5–29%)
Cranial nerve compression	Kartais (5–29%)
Delayed ability to sit	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Focal myoclonic seizure	Kartais (5–29%)
Headache	Kartais (5–29%)
Inability to move vocal cords	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 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal left ventricular function	Dažnai (30–79%)
Abnormality of the cardiovascular system	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%)
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%)
Abnormal heart rate	Kartais (5–29%)
Arachnoid hemangiomatosis	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Disease of the heart muscle	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%)
Hives	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Visada
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%)
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
Flexed joint that cannot be straightened	Visada
Generalized decreased muscle tone	Visada
Low muscle tone	Visada
Poor head control	Visada
Involuntary muscle stiffness, contraction, or spasm	Labai dažnai (80–99%)
Low muscle tone in trunk	Labai dažnai (80–99%)
Distal muscle wasting	Dažnai (30–79%)
Generalized muscle weakness	Dažnai (30–79%)
Proximal neurogenic muscle weakness	Dažnai (30–79%)
Skeletal myopathy	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Frequent falls	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Spastic paraparesis	Kartais (5–29%)
Spastic tetraparesis	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Higher than normal levels of lactate in blood	Visada
Increased circulating pyruvate concentration	Visada
Increased urine alpha-ketoglutarate concentration	Visada
Elevated urinary dopamine	Dažnai (30–79%)
Elevated urinary epinephrine level	Dažnai (30–79%)
Elevated urinary norepinephrine level	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%)
Elevated urinary catecholamines	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Adrenal pheochromocytoma	Labai dažnai (80–99%)
Extraadrenal pheochromocytoma	Labai dažnai (80–99%)
Paraganglioma	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%)
Chemodectoma	Neužfiksuota
Glomus jugular tumor	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of the eye	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Absent iris	Retai (1–4 %)
Blindness	Retai (1–4 %)
Involuntary, rapid, rhythmic eye movements	Retai (1–4 %)
Paralysis or weakness of muscles within or surrounding outer part of eye	Retai (1–4 %)
Pigmentary retinopathy	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%)
Excessive sweating	Neužfiksuota
Neurofibroma	Neužfiksuota
Patchy darkened skin	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
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%)

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 %)

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%)

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%)

Abnormality of head or neck

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Inability to straighten knee	Kartais (5–29%)
Lower limb hypertonia	Kartais (5–29%)
Large hands	Neužfiksuota

Abnormal tissue mass

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

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex II	Visada

Abnormality of the immune system

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

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Lung infiltrates	Dažnai (30–79%)

Abnormality of the voice

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

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 SDHB susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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