Tunnused

Geeniga SDHA seotud tunnused

succinate dehydrogenase complex flavoprotein subunit A

Inimese fenotüübi ontoloogia seostab geeniga SDHA 190 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Alati
Headache	Alati
Inability to coordinate movements when walking	Alati
Instability or lack of coordination of central trunk muscles	Alati
Loss of developmental milestones	Alati
Unsteady walk	Alati
Abnormal gait	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Babinski sign	Sageli (30–79%)
Balance impairment	Sageli (30–79%)
Brisk knee jerk	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Cranial nerve paralysis	Sageli (30–79%)
Degeneration of cerebellum	Sageli (30–79%)
Depression	Sageli (30–79%)
Dysesthesia	Sageli (30–79%)
Episodic paroxysmal anxiety	Sageli (30–79%)
Generalized myoclonic seizure	Sageli (30–79%)
Hyperactive deep tendon reflexes	Sageli (30–79%)
Limb ataxia	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Progressive degeneration of movement	Sageli (30–79%)
Progressive psychomotor deterioration	Sageli (30–79%)
Recurrent paroxysmal headache	Sageli (30–79%)
Upper limb hyperreflexia	Sageli (30–79%)
Communication delay	Mõnikord (5–29%)
Cranial nerve compression	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Focal myoclonic seizure	Mõnikord (5–29%)
Inability to move vocal cords	Mõnikord (5–29%)
Irritability	Mõnikord (5–29%)
Moderate global developmental delay	Mõnikord (5–29%)
Panic attack	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Dementia	Harva (1–4%)
Loss of ability to walk	Harva (1–4%)
Cognitive impairment	Pole registreeritud
Dystonia	Pole registreeritud
Increased reflexes	Pole registreeritud
Jerking	Pole registreeritud
Leukoencephalopathy	Pole registreeritud
Progressive leukoencephalopathy	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Disease of the heart muscle	Alati
Enlarged heart	Alati
Reduced left ventricular ejection fraction	Alati
Stretched and thinned heart muscle	Alati
Left ventricular systolic dysfunction	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Abnormal left ventricular function	Sageli (30–79%)
Abnormality of the cardiovascular system	Sageli (30–79%)
Cardiac failure	Sageli (30–79%)
Decrease in blood pressure upon standing up	Sageli (30–79%)
Elevated heart rate	Sageli (30–79%)
Enlarged and thickened heart muscle	Sageli (30–79%)
Fainting spell	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Hypertension associated with pheochromocytoma	Sageli (30–79%)
Hypertensive retinopathy	Sageli (30–79%)
Left ventricular hypertrophy	Sageli (30–79%)
Left ventricular noncompaction	Sageli (30–79%)
Palpitations	Sageli (30–79%)
Positive regitine blocking test	Sageli (30–79%)
Sinus tachycardia	Sageli (30–79%)
Swollen lymph nodes in center of chest	Sageli (30–79%)
Abnormal atrioventricular conduction	Mõnikord (5–29%)
Arachnoid hemangiomatosis	Mõnikord (5–29%)
Cardiogenic shock	Mõnikord (5–29%)
Hypertensive crisis	Mõnikord (5–29%)
Inflammation of heart muscle	Mõnikord (5–29%)
Noncompaction cardiomyopathy	Mõnikord (5–29%)
Swollen lymph nodes	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Diarrhea	Väga sageli (80–99%)
Gastrointestinal stroma tumor	Väga sageli (80–99%)
Nausea and vomiting	Väga sageli (80–99%)
Stomach tumor	Väga sageli (80–99%)
Accumulation of fluid in the abdomen	Sageli (30–79%)
Constipation	Sageli (30–79%)
Intermittent abdominal pain	Sageli (30–79%)
Intestinal obstruction	Sageli (30–79%)
Nausea	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Abdominal mass	Mõnikord (5–29%)
Abnormality of the liver	Mõnikord (5–29%)
Anorexia	Mõnikord (5–29%)
Colon tumor	Mõnikord (5–29%)
Esophageal tumor	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)
Gastrointestinal tract tumor	Mõnikord (5–29%)
Rectal tumor	Mõnikord (5–29%)
Small intestine tumor	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Distal muscle wasting	Sageli (30–79%)
Generalized muscle weakness	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Proximal neurogenic muscle weakness	Sageli (30–79%)
Skeletal myopathy	Sageli (30–79%)
Tired easily	Sageli (30–79%)
EMG abnormality	Mõnikord (5–29%)
Frequent falls	Mõnikord (5–29%)
Generalized decreased muscle tone	Mõnikord (5–29%)
Loss of fat tissue in localized area	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Spastic paraparesis	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)
Poor head control	Harva (1–4%)
Flexed joint that cannot be straightened	Pole registreeritud
Low muscle tone, in neonatal onset	Pole registreeritud
Muscle weakness	Pole registreeritud
Ragged-red muscle fibers	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
3-Methylglutaconic aciduria	Alati
Elevated lactate:pyruvate ratio	Alati
Higher than normal levels of lactate in blood	Alati
Increased hepatic glycogen content	Alati
Elevated urinary dopamine	Sageli (30–79%)
Elevated urinary epinephrine level	Sageli (30–79%)
Elevated urinary norepinephrine level	Sageli (30–79%)
Fluid retention	Sageli (30–79%)
High blood calcium levels	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Blood in urine	Mõnikord (5–29%)
Elevated calcitonin	Mõnikord (5–29%)
High blood sugar	Mõnikord (5–29%)
Increased intramyocellular lipid droplets	Pole registreeritud
Stress/infection-induced lactic acidosis	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Double vision	Alati
Loss of peripheral vision	Alati
Optic atrophy	Alati
Visual impairment	Alati
Abnormality of the eye	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Gaze-evoked nystagmus	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Absent iris	Harva (1–4%)
Blindness	Harva (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Harva (1–4%)
Pigmentary retinopathy	Harva (1–4%)
Drooping upper eyelid	Pole registreeritud
Eye muscle paralysis	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Alati
Hearing impairment	Sageli (30–79%)
Paroxysmal vertigo	Sageli (30–79%)
Pulsatile tinnitus	Sageli (30–79%)
Ringing in ears	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Paraganglioma	Alati
Adrenal pheochromocytoma	Väga sageli (80–99%)
Extraadrenal pheochromocytoma	Väga sageli (80–99%)
Pheochromocytoma	Väga sageli (80–99%)
Adrenal overactivity	Sageli (30–79%)
Adrenocortical adenoma	Sageli (30–79%)
Paraganglioma of head and neck	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Proportionate short stature	Sageli (30–79%)
Severe short stature	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Prenatal growth deficiency	Mõnikord (5–29%)
Short stature	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Gastrointestinal bleeding	Väga sageli (80–99%)
Bleeding in brain	Sageli (30–79%)
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Thromboembolic stroke	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Glomerular sclerosis	Sageli (30–79%)
Cancer starting in small tubes in kidneys	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)
Vesicoureteral reflux	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Flushing	Sageli (30–79%)
Sporadic excessive sweating	Sageli (30–79%)
Irregular hyperpigmentation	Mõnikord (5–29%)
Paleness	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Väga sageli (80–99%)
Exertional breathlessness	Sageli (30–79%)
Lung infiltrates	Sageli (30–79%)
Orthopnea	Sageli (30–79%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Väga sageli (80–99%)
Chest pain	Sageli (30–79%)
Muscle ache	Sageli (30–79%)
Decreased ability to exercise	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Limb muscle weakness	Alati
Inability to straighten knee	Mõnikord (5–29%)
Lower limb hypertonia	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex II	Alati
Abnormal mitochondria in muscle tissue	Pole registreeritud

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of connective tissue	Väga sageli (80–99%)
Leiomyosarcoma	Väga sageli (80–99%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Mild microcephaly	Mõnikord (5–29%)
Retinal capillary hemangioma	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Inability to produce voice sounds	Sageli (30–79%)
Loss of voice	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Skin rash	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SDHA seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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