Trăsături

Trăsături asociate cu SDHA

succinate dehydrogenase complex flavoprotein subunit A

Human Phenotype Ontology asociază 190 trăsături cu SDHA, 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
Global developmental delay	Întotdeauna
Headache	Întotdeauna
Inability to coordinate movements when walking	Întotdeauna
Instability or lack of coordination of central trunk muscles	Întotdeauna
Loss of developmental milestones	Întotdeauna
Unsteady walk	Întotdeauna
Abnormal gait	Des (30–79%)
Ataxia	Des (30–79%)
Babinski sign	Des (30–79%)
Balance impairment	Des (30–79%)
Brisk knee jerk	Des (30–79%)
Clumsiness	Des (30–79%)
Cranial nerve paralysis	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Depression	Des (30–79%)
Dysesthesia	Des (30–79%)
Episodic paroxysmal anxiety	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Hyperactive deep tendon reflexes	Des (30–79%)
Limb ataxia	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%)
Communication delay	Uneori (5–29%)
Cranial nerve compression	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Focal myoclonic seizure	Uneori (5–29%)
Inability to move vocal cords	Uneori (5–29%)
Irritability	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%)
Cognitive impairment	Neînregistrat
Dystonia	Neînregistrat
Increased reflexes	Neînregistrat
Jerking	Neînregistrat
Leukoencephalopathy	Neînregistrat
Progressive leukoencephalopathy	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Disease of the heart muscle	Întotdeauna
Enlarged heart	Întotdeauna
Reduced left ventricular ejection fraction	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Left ventricular systolic dysfunction	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Abnormal left ventricular function	Des (30–79%)
Abnormality of the cardiovascular system	Des (30–79%)
Cardiac failure	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%)
Left ventricular noncompaction	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%)
Arachnoid hemangiomatosis	Uneori (5–29%)
Cardiogenic shock	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%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
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%)
Feeding difficulties in infancy	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
Distal muscle wasting	Des (30–79%)
Generalized muscle weakness	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Skeletal myopathy	Des (30–79%)
Tired easily	Des (30–79%)
EMG abnormality	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Spastic paraparesis	Uneori (5–29%)
Spastic tetraparesis	Uneori (5–29%)
Poor head control	Rar (1–4%)
Flexed joint that cannot be straightened	Neînregistrat
Low muscle tone, in neonatal onset	Neînregistrat
Muscle weakness	Neînregistrat
Ragged-red muscle fibers	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
3-Methylglutaconic aciduria	Întotdeauna
Elevated lactate:pyruvate ratio	Întotdeauna
Higher than normal levels of lactate in blood	Întotdeauna
Increased hepatic glycogen content	Întotdeauna
Elevated urinary dopamine	Des (30–79%)
Elevated urinary epinephrine level	Des (30–79%)
Elevated urinary norepinephrine level	Des (30–79%)
Fluid retention	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%)
Increased intramyocellular lipid droplets	Neînregistrat
Stress/infection-induced lactic acidosis	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Double vision	Întotdeauna
Loss of peripheral vision	Întotdeauna
Optic atrophy	Întotdeauna
Visual impairment	Întotdeauna
Abnormality of the eye	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Gaze-evoked nystagmus	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Absent iris	Rar (1–4%)
Blindness	Rar (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Rar (1–4%)
Pigmentary retinopathy	Rar (1–4%)
Drooping upper eyelid	Neînregistrat
Eye muscle paralysis	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Întotdeauna
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%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Paraganglioma	Întotdeauna
Adrenal pheochromocytoma	Foarte des (80–99%)
Extraadrenal pheochromocytoma	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%)

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%)
Short stature	Neînregistrat

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%)
Thromboembolic stroke	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%)

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%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Foarte des (80–99%)
Exertional breathlessness	Des (30–79%)
Lung infiltrates	Des (30–79%)
Orthopnea	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Chest pain	Des (30–79%)
Muscle ache	Des (30–79%)
Decreased ability to exercise	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Limb muscle weakness	Întotdeauna
Inability to straighten knee	Uneori (5–29%)
Lower limb hypertonia	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased activity of mitochondrial complex II	Întotdeauna
Abnormal mitochondria in muscle tissue	Neînregistrat

Abnormal tissue mass

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

Abnormality of head or neck

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

Abnormality of the voice

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

Abnormality of the immune system

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

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 SDHA și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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