Trăsături

Trăsături asociate cu SDHD

succinate dehydrogenase complex subunit D

Human Phenotype Ontology asociază 164 trăsături cu SDHD, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Left ventricular hypertrophy	Întotdeauna
Left ventricular noncompaction	Întotdeauna
Left ventricular systolic dysfunction	Întotdeauna
Mitral regurgitation	Întotdeauna
Patent foramen ovale	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Tricuspid regurgitation	Întotdeauna
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%)
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%)
Palpitations	Des (30–79%)
Positive regitine blocking test	Des (30–79%)
Sinus tachycardia	Des (30–79%)
Abnormal atrioventricular conduction	Uneori (5–29%)
Arachnoid hemangiomatosis	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Carotid paraganglioma	Uneori (5–29%)
Chronic noninfectious lymphadenopathy	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Facial telangiectasia	Uneori (5–29%)
Heart murmur	Uneori (5–29%)
Hypertensive crisis	Uneori (5–29%)
Inflammation of heart muscle	Uneori (5–29%)
Noncompaction cardiomyopathy	Uneori (5–29%)
Right ventricular failure	Uneori (5–29%)
Elevated heart rate	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Întotdeauna
Dystonia	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Jerking	Întotdeauna
Loss of developmental milestones	Întotdeauna
Reduced brain N-acetyl aspartate level by MRS	Întotdeauna
Babinski sign	Des (30–79%)
Brisk knee jerk	Des (30–79%)
Cranial nerve paralysis	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%)
Communication delay	Uneori (5–29%)
Cranial nerve compression	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%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Feeding difficulties	Întotdeauna
Gastrointestinal stroma tumor	Foarte des (80–99%)
Abdominal pain	Des (30–79%)
Intermittent abdominal pain	Des (30–79%)
Intestinal carcinoid	Des (30–79%)
Intestinal obstruction	Des (30–79%)
Nausea	Des (30–79%)
Poor swallowing	Des (30–79%)
Protracted diarrhea	Des (30–79%)
Small intestine carcinoid	Des (30–79%)
Abdominal mass	Uneori (5–29%)
Constipation	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Nausea and vomiting	Uneori (5–29%)
Hepatic necrosis	Rar (1–4%)
Lack of bowel sounds	Rar (1–4%)
Gastrointestinal tract tumor	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
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%)
Frequent falls	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Spastic paraparesis	Uneori (5–29%)
Spastic tetraparesis	Uneori (5–29%)
Muscle tissue disease	Rar (1–4%)
Poor head control	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Carcinoid tumor	Întotdeauna
Adrenal pheochromocytoma	Foarte des (80–99%)
Extraadrenal pheochromocytoma	Foarte des (80–99%)
Paraganglioma	Foarte des (80–99%)
Paraganglioma of head and neck	Des (30–79%)
Increased serum serotonin	Uneori (5–29%)
Pulmonary carcinoid tumor	Uneori (5–29%)
Atypical pulmonary carcinoid tumor	Rar (1–4%)
Chemodectoma	Neînregistrat
Elevated circulating catecholamine level	Neînregistrat
Glomus jugular tumor	Neînregistrat
Glomus tympanicum paraganglioma	Neînregistrat
Vagal paraganglioma	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine lactic acid levels	Întotdeauna
Increased lactate in body	Întotdeauna
Ketonuria	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%)
Abnormal circulating B-type natriuretic peptide concentration	Uneori (5–29%)
Blood in urine	Uneori (5–29%)
Elevated calcitonin	Uneori (5–29%)
High blood sugar	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Optic disc pallor	Întotdeauna
Pendular nystagmus	Întotdeauna
Visual impairment	Întotdeauna
Abnormality of the eye	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Increased tears	Uneori (5–29%)
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 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 integument

Trăsătură	Cât de frecvent apare
Erythematous plaque	Des (30–79%)
Flushing	Des (30–79%)
Sporadic excessive sweating	Des (30–79%)
Paleness	Uneori (5–29%)
Excessive sweating	Neînregistrat

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 head or neck

Trăsătură	Cât de frecvent apare
Development of small head that was not present at birth	Întotdeauna
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%)
Hoarse voice	Neînregistrat
Loss of voice	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Fatigue	Des (30–79%)
Night sweats	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)

Abnormality of limbs

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

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Întotdeauna
Asthma	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Bronchoconstriction	Uneori (5–29%)
Runny Nose	Uneori (5–29%)

Abnormal cellular phenotype

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

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

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