Požymiai

Su SDHD susiję požymiai

succinate dehydrogenase complex subunit D

Žmogaus fenotipo ontologija sieja 164 požymių su SDHD, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Left ventricular hypertrophy	Visada
Left ventricular noncompaction	Visada
Left ventricular systolic dysfunction	Visada
Mitral regurgitation	Visada
Patent foramen ovale	Visada
Stretched and thinned heart muscle	Visada
Tricuspid regurgitation	Visada
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%)
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%)
Palpitations	Dažnai (30–79%)
Positive regitine blocking test	Dažnai (30–79%)
Sinus tachycardia	Dažnai (30–79%)
Abnormal atrioventricular conduction	Kartais (5–29%)
Arachnoid hemangiomatosis	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Carotid paraganglioma	Kartais (5–29%)
Chronic noninfectious lymphadenopathy	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Facial telangiectasia	Kartais (5–29%)
Heart murmur	Kartais (5–29%)
Hypertensive crisis	Kartais (5–29%)
Inflammation of heart muscle	Kartais (5–29%)
Noncompaction cardiomyopathy	Kartais (5–29%)
Right ventricular failure	Kartais (5–29%)
Elevated heart rate	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Ataxia	Visada
Dystonia	Visada
Epilepsy	Visada
Global developmental delay	Visada
Jerking	Visada
Loss of developmental milestones	Visada
Reduced brain N-acetyl aspartate level by MRS	Visada
Babinski sign	Dažnai (30–79%)
Brisk knee jerk	Dažnai (30–79%)
Cranial nerve paralysis	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%)
Communication delay	Kartais (5–29%)
Cranial nerve compression	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 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged liver	Visada
Feeding difficulties	Visada
Gastrointestinal stroma tumor	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Intermittent abdominal pain	Dažnai (30–79%)
Intestinal carcinoid	Dažnai (30–79%)
Intestinal obstruction	Dažnai (30–79%)
Nausea	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Protracted diarrhea	Dažnai (30–79%)
Small intestine carcinoid	Dažnai (30–79%)
Abdominal mass	Kartais (5–29%)
Constipation	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Nausea and vomiting	Kartais (5–29%)
Hepatic necrosis	Retai (1–4 %)
Lack of bowel sounds	Retai (1–4 %)
Gastrointestinal tract tumor	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
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%)
Frequent falls	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Spastic paraparesis	Kartais (5–29%)
Spastic tetraparesis	Kartais (5–29%)
Muscle tissue disease	Retai (1–4 %)
Poor head control	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Carcinoid tumor	Visada
Adrenal pheochromocytoma	Labai dažnai (80–99%)
Extraadrenal pheochromocytoma	Labai dažnai (80–99%)
Paraganglioma	Labai dažnai (80–99%)
Paraganglioma of head and neck	Dažnai (30–79%)
Increased serum serotonin	Kartais (5–29%)
Pulmonary carcinoid tumor	Kartais (5–29%)
Atypical pulmonary carcinoid tumor	Retai (1–4 %)
Chemodectoma	Neužfiksuota
Elevated circulating catecholamine level	Neužfiksuota
Glomus jugular tumor	Neužfiksuota
Glomus tympanicum paraganglioma	Neužfiksuota
Vagal paraganglioma	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High urine lactic acid levels	Visada
Increased lactate in body	Visada
Ketonuria	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%)
Abnormal circulating B-type natriuretic peptide concentration	Kartais (5–29%)
Blood in urine	Kartais (5–29%)
Elevated calcitonin	Kartais (5–29%)
High blood sugar	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Optic disc pallor	Visada
Pendular nystagmus	Visada
Visual impairment	Visada
Abnormality of the eye	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Increased tears	Kartais (5–29%)
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 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 integument

Požymis	Kaip dažnai pasireiškia
Erythematous plaque	Dažnai (30–79%)
Flushing	Dažnai (30–79%)
Sporadic excessive sweating	Dažnai (30–79%)
Paleness	Kartais (5–29%)
Excessive sweating	Neužfiksuota

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 head or neck

Požymis	Kaip dažnai pasireiškia
Development of small head that was not present at birth	Visada
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%)
Hoarse voice	Neužfiksuota
Loss of voice	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)
Night sweats	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Dažnai (30–79%)
Gastrointestinal bleeding	Dažnai (30–79%)

Abnormality of limbs

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

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Visada
Asthma	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Bronchoconstriction	Kartais (5–29%)
Runny Nose	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex II	Visada

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

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