Požymiai

Su PIGA susiję požymiai

phosphatidylinositol glycan anchor biosynthesis class A

Žmogaus fenotipo ontologija sieja 266 požymių su PIGA, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal cerebral white matter morphology	Visada
Absent septum pellucidum	Visada
Absent speech development	Visada
Absent/small cerebral white matter	Visada
Aplasia/Hypoplasia of the corpus callosum	Visada
Arrhinencephaly	Visada
Autism	Visada
Babinski sign	Visada
Brisk reflexes	Visada
Cerebral white matter hypoplasia	Visada
CNS hypomyelination	Visada
Decrease in size of the outer layer of the brain due to loss of brain cells	Visada
Degeneration of cerebellum	Visada
Degeneration of cerebrum	Visada
Diffuse leukoencephalopathy	Visada
Dystonia	Visada
EEG with burst suppression	Visada
EEG with generalized polyspikes	Visada
Encephalopathy	Visada
Epilepsy	Visada
Epileptic encephalopathy	Visada
Exaggerated startle response	Visada
Febrile seizure (within the age range of 3 months to 6 years)	Visada
Focal clonic seizure	Visada
Focal seizure with eyelid myoclonia	Visada
Generalized myoclonic seizure	Visada
Generalized tonic seizure	Visada
Generalized-onset seizure	Visada
Gliosis	Visada
Global developmental delay	Visada
Grand mal seizures	Visada
Grasp reflex	Visada
Head titubation	Visada
Hypsarrhythmia	Visada
Inability to walk	Visada
Increased reflexes	Visada
Instability or lack of coordination of central trunk muscles	Visada
IQ between 34 and 49	Visada
IQ less than 20	Visada
Jerking	Visada
Loss of brain cells	Visada
Loss of developmental milestones	Visada
Motor delay	Visada
Neuronal loss in the cerebral cortex	Visada
Paralysis of all four limbs	Visada
Poor eye contact	Visada
Postural tremor	Visada
Profound global developmental delay	Visada
Repeated seizures without recovery between them	Visada
Small cerebellum	Visada
Underdevelopment of part of brain called corpus callosum	Visada
Ventriculomegaly	Visada
Widened subarachnoid space	Visada
Cognitive impairment	Labai dažnai (80–99%)
Infantile spasms	Labai dažnai (80–99%)
Multifocal epileptiform discharges	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Abnormality of the nervous system	Dažnai (30–79%)
Bilateral tonic-clonic seizure with focal onset	Dažnai (30–79%)
Focal emotional seizure with laughing	Dažnai (30–79%)
Focal hemiclonic seizure	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Lateral ventricle dilatation	Dažnai (30–79%)
Myoclonic seizure	Dažnai (30–79%)
Olfactory lobe absence	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Epileptic spasm	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Abnormal pons morphology	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the area between the eyebrows	Visada
Abnormality of the brow of the face	Visada
Abnormality of the face	Visada
Abnormality of the philtrum	Visada
Absence of adult teeth	Visada
Asymmetry of the posterior head	Visada
Broad forehead	Visada
Broad head shape	Visada
Broad opening between the eyelids	Visada
Coarse facial features	Visada
Decreased facial expression	Visada
Decreased size of tooth	Visada
Decreased volume of lip	Visada
Delayed eruption of teeth	Visada
Development of small head that was not present at birth	Visada
Facial asymmetry	Visada
Failure of development of all teeth	Visada
Flat back of skull	Visada
High frontal hairline	Visada
High, narrow palate	Visada
Increased size of gum ridge	Visada
Redundant neck skin	Visada
Round face	Visada
Short opening between the eyelids	Visada
Thickened skin folds of neck	Visada
Widely spaced teeth	Visada
Abnormally small head	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
Gum enlargement	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Metopic synostosis	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Upward slanting of the opening between the eyelids	Dažnai (30–79%)
Wide fontanelles	Dažnai (30–79%)
Yellowing of the whites of the eyes	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Pierre-Robin sequence	Kartais (5–29%)
Big calvaria	Neužfiksuota
Increased head circumference	Neužfiksuota
Little lower jaw	Neužfiksuota
Triangular mouth	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Abnormal circulating iron concentration	Visada
Abnormal liver iron concentration	Visada
Decreased circulating hepcidin concentration	Visada
Elevated circulating iron concentration	Visada
Elevated serum ferritin	Visada
Elevated transferrin saturation	Visada
Fatty infiltration of liver	Visada
Fluid retention	Visada
Increased CSF glutamate concentration	Visada
Increased iron concentration in liver	Visada
Elevated alkaline phosphatase	Labai dažnai (80–99%)
Hemoglobin in urine	Labai dažnai (80–99%)
Decreased circulating haptoglobin concentration	Dažnai (30–79%)
Decreased circulating iron concentration	Dažnai (30–79%)
Hemosiderinuria	Dažnai (30–79%)
Increased blood urea nitrogen	Dažnai (30–79%)
Increased circulating lactate dehydrogenase concentration	Dažnai (30–79%)
Microvesicular hepatic steatosis	Dažnai (30–79%)
Unconjugated hyperbilirubinemia	Dažnai (30–79%)
High urine protein levels	Kartais (5–29%)
Glucose in urine	Retai (1–4 %)
Renal Fanconi syndrome	Retai (1–4 %)
Hydrops fetalis	Neužfiksuota
Paroxysmal nocturnal hemoglobinuria	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal shape of joints	Visada
Diffuse skeletal muscle wasting	Visada
Flexed joint that cannot be straightened	Visada
Involuntary muscle stiffness, contraction, or spasm	Visada
Limb contractures	Visada
Low muscle tone	Visada
Low muscle tone in trunk	Visada
Muscle degeneration	Visada
Opisthotonus	Visada
Permanent flexion of the finger or toe	Visada
Poor head control	Visada
Rigidity	Visada
Scoliosis	Visada
Spastic tetraplegia	Visada
Thin bony cortex	Visada
Functional motor deficit	Labai dažnai (80–99%)
Small chest	Dažnai (30–79%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Lower limb spasticity	Neužfiksuota
Uncontrollable movement in upper arms	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormal erythrocyte enzyme concentration or activity	Visada
Low platelet count	Visada
Stomatocytosis	Visada
Hemolytic anemia	Labai dažnai (80–99%)
Low number of red blood cells or hemoglobin	Labai dažnai (80–99%)
Blood clot in a deep vein	Dažnai (30–79%)
Blood clot in vein	Dažnai (30–79%)
Increased immature red blood cells	Dažnai (30–79%)
Thromboembolism	Dažnai (30–79%)
Blood clot in artery	Kartais (5–29%)
Decreased blood leukocyte number	Kartais (5–29%)
Erythroid hyperplasia	Kartais (5–29%)
Low blood cell count	Kartais (5–29%)
Mesenteric venous thrombosis	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Enlarged liver and spleen	Visada
Heart stops beating	Visada
Increased spleen size	Visada
Left ventricular hypertrophy	Visada
Right ventricular hypertrophy	Visada
Ventricular arrhythmia	Visada
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Patent ductus arteriosus	Dažnai (30–79%)
Aortopulmonary collateral arteries	Kartais (5–29%)
Blood clot in artery of lung	Kartais (5–29%)
Budd-Chiari syndrome	Kartais (5–29%)
Heart attack	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Stroke	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal bloating	Visada
Accumulation of fluid in the abdomen	Visada
Enlarged liver	Visada
Liver failure	Visada
Micronodular cirrhosis	Visada
Starry sky appearance on hepatic sonography	Visada
Intermittent abdominal pain	Dažnai (30–79%)
Jaundice	Kartais (5–29%)
Painful swallowing	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Esophageal spasms	Retai (1–4 %)
Poor swallowing	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormal macular morphology	Visada
Abnormal visual fixation	Visada
Abnormality of eye movement	Visada
Breakdown of light-sensitive cells in back of eye	Visada
Cerebral visual impairment	Visada
Close sighted	Visada
Drooping of both upper eyelids	Visada
Moderate visual impairment	Visada
Optic disc pallor	Visada
Wide-set eyes	Visada
Visual impairment	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hydronephrosis	Visada
Testicular degeneration	Visada
Vesicoureteral reflux	Labai dažnai (80–99%)
Chronic kidney disease	Dažnai (30–79%)
Duplicated collecting system	Dažnai (30–79%)
Acute kidney injury	Kartais (5–29%)
Difficulty getting a full erection	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Short penis	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormal feet structure	Visada
Deep palm line	Visada
Short finger	Visada
Tapered finger	Visada
Broad palm	Dažnai (30–79%)
Elbow flexion contracture	Dažnai (30–79%)
Hip contracture	Dažnai (30–79%)
Inability to straighten knee	Dažnai (30–79%)
Lower limb hypertonia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Frontal upsweep of hair	Visada
Paleness	Visada
Papule	Visada
Abnormal skin structure	Dažnai (30–79%)
Ichthyosis	Dažnai (30–79%)
Small nail	Dažnai (30–79%)
Abnormal skin pigmentation	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Acute aspiration pneumonia	Visada
Aspiration pneumonia	Visada
Pneumonia	Visada
Psoriasiform dermatitis	Visada
Seborrheic dermatitis	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Visada
Aspiration	Visada
Respiratory tract infection	Visada
Breathing difficulty	Dažnai (30–79%)
Respiratory failure	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Birth weight > 90th percentile	Visada
Short stature	Visada
Faltering weight	Kartais (5–29%)
General overgrowth	Kartais (5–29%)
Birth length greater than 97th percentile	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Labai dažnai (80–99%)
Bilateral fetal pyelectasis	Dažnai (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Dažnai (30–79%)
Fetal distress	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Visada
Uplifted earlobe	Visada
Overfolded ears	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Lack of energy and strength	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)
Erythromelalgia	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of the mitochondrion	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su PIGA susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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