Kjennetegn

Kjennetegn knyttet til SDHA

succinate dehydrogenase complex flavoprotein subunit A

Human Phenotype Ontology knytter 190 kjennetegn til SDHA, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

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

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abdominal pain	Svært ofte (80–99 %)
Diarrhea	Svært ofte (80–99 %)
Gastrointestinal stroma tumor	Svært ofte (80–99 %)
Nausea and vomiting	Svært ofte (80–99 %)
Stomach tumor	Svært ofte (80–99 %)
Accumulation of fluid in the abdomen	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Intermittent abdominal pain	Ofte (30–79 %)
Intestinal obstruction	Ofte (30–79 %)
Nausea	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Abdominal mass	Noen ganger (5–29 %)
Abnormality of the liver	Noen ganger (5–29 %)
Anorexia	Noen ganger (5–29 %)
Colon tumor	Noen ganger (5–29 %)
Esophageal tumor	Noen ganger (5–29 %)
Feeding difficulties in infancy	Noen ganger (5–29 %)
Gastrointestinal tract tumor	Noen ganger (5–29 %)
Rectal tumor	Noen ganger (5–29 %)
Small intestine tumor	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Distal muscle wasting	Ofte (30–79 %)
Generalized muscle weakness	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Proximal neurogenic muscle weakness	Ofte (30–79 %)
Skeletal myopathy	Ofte (30–79 %)
Tired easily	Ofte (30–79 %)
EMG abnormality	Noen ganger (5–29 %)
Frequent falls	Noen ganger (5–29 %)
Generalized decreased muscle tone	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle degeneration	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Spastic paraparesis	Noen ganger (5–29 %)
Spastic tetraparesis	Noen ganger (5–29 %)
Poor head control	Sjelden (1–4%)
Flexed joint that cannot be straightened	Ikke registrert
Low muscle tone, in neonatal onset	Ikke registrert
Muscle weakness	Ikke registrert
Ragged-red muscle fibers	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
3-Methylglutaconic aciduria	Alltid
Elevated lactate:pyruvate ratio	Alltid
Higher than normal levels of lactate in blood	Alltid
Increased hepatic glycogen content	Alltid
Elevated urinary dopamine	Ofte (30–79 %)
Elevated urinary epinephrine level	Ofte (30–79 %)
Elevated urinary norepinephrine level	Ofte (30–79 %)
Fluid retention	Ofte (30–79 %)
High blood calcium levels	Ofte (30–79 %)
High urine protein levels	Ofte (30–79 %)
Blood in urine	Noen ganger (5–29 %)
Elevated calcitonin	Noen ganger (5–29 %)
High blood sugar	Noen ganger (5–29 %)
Increased intramyocellular lipid droplets	Ikke registrert
Stress/infection-induced lactic acidosis	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Double vision	Alltid
Loss of peripheral vision	Alltid
Optic atrophy	Alltid
Visual impairment	Alltid
Abnormality of the eye	Ofte (30–79 %)
Decreased clarity of vision	Ofte (30–79 %)
Gaze-evoked nystagmus	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Absent iris	Sjelden (1–4%)
Blindness	Sjelden (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sjelden (1–4%)
Pigmentary retinopathy	Sjelden (1–4%)
Drooping upper eyelid	Ikke registrert
Eye muscle paralysis	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Dizziness	Alltid
Hearing impairment	Ofte (30–79 %)
Paroxysmal vertigo	Ofte (30–79 %)
Pulsatile tinnitus	Ofte (30–79 %)
Ringing in ears	Ofte (30–79 %)
Conductive deafness	Noen ganger (5–29 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Paraganglioma	Alltid
Adrenal pheochromocytoma	Svært ofte (80–99 %)
Extraadrenal pheochromocytoma	Svært ofte (80–99 %)
Pheochromocytoma	Svært ofte (80–99 %)
Adrenal overactivity	Ofte (30–79 %)
Adrenocortical adenoma	Ofte (30–79 %)
Paraganglioma of head and neck	Ofte (30–79 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Proportionate short stature	Ofte (30–79 %)
Severe short stature	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Short stature	Ikke registrert

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Gastrointestinal bleeding	Svært ofte (80–99 %)
Bleeding in brain	Ofte (30–79 %)
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)
Thromboembolic stroke	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Glomerular sclerosis	Ofte (30–79 %)
Cancer starting in small tubes in kidneys	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Vesicoureteral reflux	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Flushing	Ofte (30–79 %)
Sporadic excessive sweating	Ofte (30–79 %)
Irregular hyperpigmentation	Noen ganger (5–29 %)
Paleness	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulties	Svært ofte (80–99 %)
Exertional breathlessness	Ofte (30–79 %)
Lung infiltrates	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Fatigue	Svært ofte (80–99 %)
Chest pain	Ofte (30–79 %)
Muscle ache	Ofte (30–79 %)
Decreased ability to exercise	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Limb muscle weakness	Alltid
Inability to straighten knee	Noen ganger (5–29 %)
Lower limb hypertonia	Noen ganger (5–29 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased activity of mitochondrial complex II	Alltid
Abnormal mitochondria in muscle tissue	Ikke registrert

Abnormal tissue mass

Kjennetegn	Hvor ofte den forekommer
Cancer of connective tissue	Svært ofte (80–99 %)
Leiomyosarcoma	Svært ofte (80–99 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Mild microcephaly	Noen ganger (5–29 %)
Retinal capillary hemangioma	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Inability to produce voice sounds	Ofte (30–79 %)
Loss of voice	Ofte (30–79 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Skin rash	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til SDHA og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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