Tunnused

Geeniga SDHB seotud tunnused

succinate dehydrogenase complex iron sulfur subunit B

Inimese fenotüübi ontoloogia seostab geeniga SDHB 161 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed ability to stand	Alati
Delayed ability to walk	Alati
Elevated brain lactate level by MRS	Alati
Falls	Alati
Hyperintensity of cerebral white matter on MRI	Alati
Increased reflexes	Alati
Irritability	Alati
Leukodystrophy	Alati
Loss of developmental milestones	Alati
Ataxia	Sageli (30–79%)
Babinski sign	Sageli (30–79%)
Brisk knee jerk	Sageli (30–79%)
Cranial nerve paralysis	Sageli (30–79%)
Dystonia	Sageli (30–79%)
Episodic paroxysmal anxiety	Sageli (30–79%)
Generalized myoclonic seizure	Sageli (30–79%)
Hyperactive deep tendon reflexes	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%)
Cancer of early nerve cells	Mõnikord (5–29%)
Communication delay	Mõnikord (5–29%)
Cranial nerve compression	Mõnikord (5–29%)
Delayed ability to sit	Mõnikord (5–29%)
Delayed speech and language development	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Mõnikord (5–29%)
Focal myoclonic seizure	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Inability to move vocal cords	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%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal left ventricular function	Sageli (30–79%)
Abnormality of the cardiovascular system	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%)
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%)
Abnormal heart rate	Mõnikord (5–29%)
Arachnoid hemangiomatosis	Mõnikord (5–29%)
Cardiac failure	Mõnikord (5–29%)
Disease of the heart muscle	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%)
Hives	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Alati
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%)
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
Flexed joint that cannot be straightened	Alati
Generalized decreased muscle tone	Alati
Low muscle tone	Alati
Poor head control	Alati
Involuntary muscle stiffness, contraction, or spasm	Väga sageli (80–99%)
Low muscle tone in trunk	Väga sageli (80–99%)
Distal muscle wasting	Sageli (30–79%)
Generalized muscle weakness	Sageli (30–79%)
Proximal neurogenic muscle weakness	Sageli (30–79%)
Skeletal myopathy	Sageli (30–79%)
Tired easily	Sageli (30–79%)
Frequent falls	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)
Spastic paraparesis	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Higher than normal levels of lactate in blood	Alati
Increased circulating pyruvate concentration	Alati
Increased urine alpha-ketoglutarate concentration	Alati
Elevated urinary dopamine	Sageli (30–79%)
Elevated urinary epinephrine level	Sageli (30–79%)
Elevated urinary norepinephrine level	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%)
Elevated urinary catecholamines	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Adrenal pheochromocytoma	Väga sageli (80–99%)
Extraadrenal pheochromocytoma	Väga sageli (80–99%)
Paraganglioma	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%)
Chemodectoma	Pole registreeritud
Glomus jugular tumor	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormality of the eye	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Absent iris	Harva (1–4%)
Blindness	Harva (1–4%)
Involuntary, rapid, rhythmic eye movements	Harva (1–4%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Harva (1–4%)
Pigmentary retinopathy	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%)
Excessive sweating	Pole registreeritud
Neurofibroma	Pole registreeritud
Patchy darkened skin	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
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%)

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%)

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%)

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%)

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Inability to straighten knee	Mõnikord (5–29%)
Lower limb hypertonia	Mõnikord (5–29%)
Large hands	Pole registreeritud

Abnormal tissue mass

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

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Väga sageli (80–99%)
Chest pain	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex II	Alati

Abnormality of the immune system

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

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Lung infiltrates	Sageli (30–79%)

Abnormality of the voice

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

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 SDHB seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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