Trăsături

Trăsături asociate cu SDHB

succinate dehydrogenase complex iron sulfur subunit B

Human Phenotype Ontology asociază 161 trăsături cu SDHB, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to stand	Întotdeauna
Delayed ability to walk	Întotdeauna
Elevated brain lactate level by MRS	Întotdeauna
Falls	Întotdeauna
Hyperintensity of cerebral white matter on MRI	Întotdeauna
Increased reflexes	Întotdeauna
Irritability	Întotdeauna
Leukodystrophy	Întotdeauna
Loss of developmental milestones	Întotdeauna
Ataxia	Des (30–79%)
Babinski sign	Des (30–79%)
Brisk knee jerk	Des (30–79%)
Cranial nerve paralysis	Des (30–79%)
Dystonia	Des (30–79%)
Episodic paroxysmal anxiety	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Hyperactive deep tendon reflexes	Des (30–79%)
Motor delay	Des (30–79%)
Progressive degeneration of movement	Des (30–79%)
Progressive psychomotor deterioration	Des (30–79%)
Recurrent paroxysmal headache	Des (30–79%)
Upper limb hyperreflexia	Des (30–79%)
Cancer of early nerve cells	Uneori (5–29%)
Communication delay	Uneori (5–29%)
Cranial nerve compression	Uneori (5–29%)
Delayed ability to sit	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Focal myoclonic seizure	Uneori (5–29%)
Headache	Uneori (5–29%)
Inability to move vocal cords	Uneori (5–29%)
Moderate global developmental delay	Uneori (5–29%)
Panic attack	Uneori (5–29%)
Tremor	Uneori (5–29%)
Dementia	Rar (1–4%)
Loss of ability to walk	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal left ventricular function	Des (30–79%)
Abnormality of the cardiovascular system	Des (30–79%)
Decrease in blood pressure upon standing up	Des (30–79%)
Elevated heart rate	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Fainting spell	Des (30–79%)
High blood pressure	Des (30–79%)
Hypertension associated with pheochromocytoma	Des (30–79%)
Hypertensive retinopathy	Des (30–79%)
Left ventricular hypertrophy	Des (30–79%)
Palpitations	Des (30–79%)
Positive regitine blocking test	Des (30–79%)
Sinus tachycardia	Des (30–79%)
Swollen lymph nodes in center of chest	Des (30–79%)
Abnormal atrioventricular conduction	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
Arachnoid hemangiomatosis	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Hypertensive crisis	Uneori (5–29%)
Inflammation of heart muscle	Uneori (5–29%)
Noncompaction cardiomyopathy	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Hives	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Întotdeauna
Abdominal pain	Foarte des (80–99%)
Diarrhea	Foarte des (80–99%)
Gastrointestinal stroma tumor	Foarte des (80–99%)
Nausea and vomiting	Foarte des (80–99%)
Stomach tumor	Foarte des (80–99%)
Accumulation of fluid in the abdomen	Des (30–79%)
Constipation	Des (30–79%)
Intermittent abdominal pain	Des (30–79%)
Intestinal obstruction	Des (30–79%)
Nausea	Des (30–79%)
Poor swallowing	Des (30–79%)
Abdominal mass	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Anorexia	Uneori (5–29%)
Colon tumor	Uneori (5–29%)
Esophageal tumor	Uneori (5–29%)
Gastrointestinal tract tumor	Uneori (5–29%)
Rectal tumor	Uneori (5–29%)
Small intestine tumor	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Flexed joint that cannot be straightened	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Low muscle tone	Întotdeauna
Poor head control	Întotdeauna
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Low muscle tone in trunk	Foarte des (80–99%)
Distal muscle wasting	Des (30–79%)
Generalized muscle weakness	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Skeletal myopathy	Des (30–79%)
Tired easily	Des (30–79%)
Frequent falls	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Spastic paraparesis	Uneori (5–29%)
Spastic tetraparesis	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Higher than normal levels of lactate in blood	Întotdeauna
Increased circulating pyruvate concentration	Întotdeauna
Increased urine alpha-ketoglutarate concentration	Întotdeauna
Elevated urinary dopamine	Des (30–79%)
Elevated urinary epinephrine level	Des (30–79%)
Elevated urinary norepinephrine level	Des (30–79%)
High blood calcium levels	Des (30–79%)
High urine protein levels	Des (30–79%)
Blood in urine	Uneori (5–29%)
Elevated calcitonin	Uneori (5–29%)
High blood sugar	Uneori (5–29%)
Elevated urinary catecholamines	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenal pheochromocytoma	Foarte des (80–99%)
Extraadrenal pheochromocytoma	Foarte des (80–99%)
Paraganglioma	Foarte des (80–99%)
Pheochromocytoma	Foarte des (80–99%)
Adrenal overactivity	Des (30–79%)
Adrenocortical adenoma	Des (30–79%)
Paraganglioma of head and neck	Des (30–79%)
Chemodectoma	Neînregistrat
Glomus jugular tumor	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Absent iris	Rar (1–4%)
Blindness	Rar (1–4%)
Involuntary, rapid, rhythmic eye movements	Rar (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Rar (1–4%)
Pigmentary retinopathy	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Flushing	Des (30–79%)
Sporadic excessive sweating	Des (30–79%)
Irregular hyperpigmentation	Uneori (5–29%)
Paleness	Uneori (5–29%)
Excessive sweating	Neînregistrat
Neurofibroma	Neînregistrat
Patchy darkened skin	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Paroxysmal vertigo	Des (30–79%)
Pulsatile tinnitus	Des (30–79%)
Ringing in ears	Des (30–79%)
Conductive deafness	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Glomerular sclerosis	Des (30–79%)
Cancer starting in small tubes in kidneys	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Vesicoureteral reflux	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Proportionate short stature	Des (30–79%)
Severe short stature	Des (30–79%)
Weight loss	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Gastrointestinal bleeding	Foarte des (80–99%)
Bleeding in brain	Des (30–79%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Mild microcephaly	Uneori (5–29%)
Retinal capillary hemangioma	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Inability to straighten knee	Uneori (5–29%)
Lower limb hypertonia	Uneori (5–29%)
Large hands	Neînregistrat

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of connective tissue	Foarte des (80–99%)
Leiomyosarcoma	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Chest pain	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased activity of mitochondrial complex II	Întotdeauna

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Skin rash	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung infiltrates	Des (30–79%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SDHB și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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