Özellikler

PIGA ile ilişkili özellikler

phosphatidylinositol glycan anchor biosynthesis class A

Human Phenotype Ontology, PIGA ile ilişkili 266 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Abnormal circulating iron concentration	Her zaman
Abnormal liver iron concentration	Her zaman
Decreased circulating hepcidin concentration	Her zaman
Elevated circulating iron concentration	Her zaman
Elevated serum ferritin	Her zaman
Elevated transferrin saturation	Her zaman
Fatty infiltration of liver	Her zaman
Fluid retention	Her zaman
Increased CSF glutamate concentration	Her zaman
Increased iron concentration in liver	Her zaman
Elevated alkaline phosphatase	Çok sık (%80–99)
Hemoglobin in urine	Çok sık (%80–99)
Decreased circulating haptoglobin concentration	Sık (%30–79)
Decreased circulating iron concentration	Sık (%30–79)
Hemosiderinuria	Sık (%30–79)
Increased blood urea nitrogen	Sık (%30–79)
Increased circulating lactate dehydrogenase concentration	Sık (%30–79)
Microvesicular hepatic steatosis	Sık (%30–79)
Unconjugated hyperbilirubinemia	Sık (%30–79)
High urine protein levels	Bazen (%5–29)
Glucose in urine	Seyrek (%1–4)
Renal Fanconi syndrome	Seyrek (%1–4)
Hydrops fetalis	Kaydedilmedi
Paroxysmal nocturnal hemoglobinuria	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Abnormal shape of joints	Her zaman
Diffuse skeletal muscle wasting	Her zaman
Flexed joint that cannot be straightened	Her zaman
Involuntary muscle stiffness, contraction, or spasm	Her zaman
Limb contractures	Her zaman
Low muscle tone	Her zaman
Low muscle tone in trunk	Her zaman
Muscle degeneration	Her zaman
Opisthotonus	Her zaman
Permanent flexion of the finger or toe	Her zaman
Poor head control	Her zaman
Rigidity	Her zaman
Scoliosis	Her zaman
Spastic tetraplegia	Her zaman
Thin bony cortex	Her zaman
Functional motor deficit	Çok sık (%80–99)
Small chest	Sık (%30–79)
Spasticity and rigidity of muscles	Bazen (%5–29)
Lower limb spasticity	Kaydedilmedi
Uncontrollable movement in upper arms	Kaydedilmedi

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Abnormal erythrocyte enzyme concentration or activity	Her zaman
Low platelet count	Her zaman
Stomatocytosis	Her zaman
Hemolytic anemia	Çok sık (%80–99)
Low number of red blood cells or hemoglobin	Çok sık (%80–99)
Blood clot in a deep vein	Sık (%30–79)
Blood clot in vein	Sık (%30–79)
Increased immature red blood cells	Sık (%30–79)
Thromboembolism	Sık (%30–79)
Blood clot in artery	Bazen (%5–29)
Decreased blood leukocyte number	Bazen (%5–29)
Erythroid hyperplasia	Bazen (%5–29)
Low blood cell count	Bazen (%5–29)
Mesenteric venous thrombosis	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Enlarged liver and spleen	Her zaman
Heart stops beating	Her zaman
Increased spleen size	Her zaman
Left ventricular hypertrophy	Her zaman
Right ventricular hypertrophy	Her zaman
Ventricular arrhythmia	Her zaman
An opening in the wall separating the top two chambers of the heart	Sık (%30–79)
Patent ductus arteriosus	Sık (%30–79)
Aortopulmonary collateral arteries	Bazen (%5–29)
Blood clot in artery of lung	Bazen (%5–29)
Budd-Chiari syndrome	Bazen (%5–29)
Heart attack	Bazen (%5–29)
High blood pressure	Bazen (%5–29)
Stroke	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Abdominal bloating	Her zaman
Accumulation of fluid in the abdomen	Her zaman
Enlarged liver	Her zaman
Liver failure	Her zaman
Micronodular cirrhosis	Her zaman
Starry sky appearance on hepatic sonography	Her zaman
Intermittent abdominal pain	Sık (%30–79)
Jaundice	Bazen (%5–29)
Painful swallowing	Bazen (%5–29)
Scar tissue replaces healthy tissue in the liver	Bazen (%5–29)
Esophageal spasms	Seyrek (%1–4)
Poor swallowing	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Abnormal macular morphology	Her zaman
Abnormal visual fixation	Her zaman
Abnormality of eye movement	Her zaman
Breakdown of light-sensitive cells in back of eye	Her zaman
Cerebral visual impairment	Her zaman
Close sighted	Her zaman
Drooping of both upper eyelids	Her zaman
Moderate visual impairment	Her zaman
Optic disc pallor	Her zaman
Wide-set eyes	Her zaman
Visual impairment	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Hydronephrosis	Her zaman
Testicular degeneration	Her zaman
Vesicoureteral reflux	Çok sık (%80–99)
Chronic kidney disease	Sık (%30–79)
Duplicated collecting system	Sık (%30–79)
Acute kidney injury	Bazen (%5–29)
Difficulty getting a full erection	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Renal failure	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Short penis	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Abnormal feet structure	Her zaman
Deep palm line	Her zaman
Short finger	Her zaman
Tapered finger	Her zaman
Broad palm	Sık (%30–79)
Elbow flexion contracture	Sık (%30–79)
Hip contracture	Sık (%30–79)
Inability to straighten knee	Sık (%30–79)
Lower limb hypertonia	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Frontal upsweep of hair	Her zaman
Paleness	Her zaman
Papule	Her zaman
Abnormal skin structure	Sık (%30–79)
Ichthyosis	Sık (%30–79)
Small nail	Sık (%30–79)
Abnormal skin pigmentation	Kaydedilmedi

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Acute aspiration pneumonia	Her zaman
Aspiration pneumonia	Her zaman
Pneumonia	Her zaman
Psoriasiform dermatitis	Her zaman
Seborrheic dermatitis	Sık (%30–79)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Apnea	Her zaman
Aspiration	Her zaman
Respiratory tract infection	Her zaman
Breathing difficulty	Sık (%30–79)
Respiratory failure	Sık (%30–79)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Birth weight > 90th percentile	Her zaman
Short stature	Her zaman
Faltering weight	Bazen (%5–29)
General overgrowth	Bazen (%5–29)
Birth length greater than 97th percentile	Kaydedilmedi

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
High levels of amniotic fluid	Çok sık (%80–99)
Bilateral fetal pyelectasis	Sık (%30–79)
Feet or buttocks of fetus positioned near opening of uterus	Sık (%30–79)
Fetal distress	Sık (%30–79)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Hearing impairment	Her zaman
Uplifted earlobe	Her zaman
Overfolded ears	Sık (%30–79)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Lack of energy and strength	Çok sık (%80–99)
Chest pain	Sık (%30–79)
Erythromelalgia	Sık (%30–79)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Abnormality of the mitochondrion	Her zaman

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: PIGA ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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