Tunnused

Geeniga PIGA seotud tunnused

phosphatidylinositol glycan anchor biosynthesis class A

Inimese fenotüübi ontoloogia seostab geeniga PIGA 266 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating iron concentration	Alati
Abnormal liver iron concentration	Alati
Decreased circulating hepcidin concentration	Alati
Elevated circulating iron concentration	Alati
Elevated serum ferritin	Alati
Elevated transferrin saturation	Alati
Fatty infiltration of liver	Alati
Fluid retention	Alati
Increased CSF glutamate concentration	Alati
Increased iron concentration in liver	Alati
Elevated alkaline phosphatase	Väga sageli (80–99%)
Hemoglobin in urine	Väga sageli (80–99%)
Decreased circulating haptoglobin concentration	Sageli (30–79%)
Decreased circulating iron concentration	Sageli (30–79%)
Hemosiderinuria	Sageli (30–79%)
Increased blood urea nitrogen	Sageli (30–79%)
Increased circulating lactate dehydrogenase concentration	Sageli (30–79%)
Microvesicular hepatic steatosis	Sageli (30–79%)
Unconjugated hyperbilirubinemia	Sageli (30–79%)
High urine protein levels	Mõnikord (5–29%)
Glucose in urine	Harva (1–4%)
Renal Fanconi syndrome	Harva (1–4%)
Hydrops fetalis	Pole registreeritud
Paroxysmal nocturnal hemoglobinuria	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal shape of joints	Alati
Diffuse skeletal muscle wasting	Alati
Flexed joint that cannot be straightened	Alati
Involuntary muscle stiffness, contraction, or spasm	Alati
Limb contractures	Alati
Low muscle tone	Alati
Low muscle tone in trunk	Alati
Muscle degeneration	Alati
Opisthotonus	Alati
Permanent flexion of the finger or toe	Alati
Poor head control	Alati
Rigidity	Alati
Scoliosis	Alati
Spastic tetraplegia	Alati
Thin bony cortex	Alati
Functional motor deficit	Väga sageli (80–99%)
Small chest	Sageli (30–79%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Lower limb spasticity	Pole registreeritud
Uncontrollable movement in upper arms	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Abnormal erythrocyte enzyme concentration or activity	Alati
Low platelet count	Alati
Stomatocytosis	Alati
Hemolytic anemia	Väga sageli (80–99%)
Low number of red blood cells or hemoglobin	Väga sageli (80–99%)
Blood clot in a deep vein	Sageli (30–79%)
Blood clot in vein	Sageli (30–79%)
Increased immature red blood cells	Sageli (30–79%)
Thromboembolism	Sageli (30–79%)
Blood clot in artery	Mõnikord (5–29%)
Decreased blood leukocyte number	Mõnikord (5–29%)
Erythroid hyperplasia	Mõnikord (5–29%)
Low blood cell count	Mõnikord (5–29%)
Mesenteric venous thrombosis	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver and spleen	Alati
Heart stops beating	Alati
Increased spleen size	Alati
Left ventricular hypertrophy	Alati
Right ventricular hypertrophy	Alati
Ventricular arrhythmia	Alati
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Patent ductus arteriosus	Sageli (30–79%)
Aortopulmonary collateral arteries	Mõnikord (5–29%)
Blood clot in artery of lung	Mõnikord (5–29%)
Budd-Chiari syndrome	Mõnikord (5–29%)
Heart attack	Mõnikord (5–29%)
High blood pressure	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal bloating	Alati
Accumulation of fluid in the abdomen	Alati
Enlarged liver	Alati
Liver failure	Alati
Micronodular cirrhosis	Alati
Starry sky appearance on hepatic sonography	Alati
Intermittent abdominal pain	Sageli (30–79%)
Jaundice	Mõnikord (5–29%)
Painful swallowing	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Esophageal spasms	Harva (1–4%)
Poor swallowing	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal macular morphology	Alati
Abnormal visual fixation	Alati
Abnormality of eye movement	Alati
Breakdown of light-sensitive cells in back of eye	Alati
Cerebral visual impairment	Alati
Close sighted	Alati
Drooping of both upper eyelids	Alati
Moderate visual impairment	Alati
Optic disc pallor	Alati
Wide-set eyes	Alati
Visual impairment	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hydronephrosis	Alati
Testicular degeneration	Alati
Vesicoureteral reflux	Väga sageli (80–99%)
Chronic kidney disease	Sageli (30–79%)
Duplicated collecting system	Sageli (30–79%)
Acute kidney injury	Mõnikord (5–29%)
Difficulty getting a full erection	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Short penis	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormal feet structure	Alati
Deep palm line	Alati
Short finger	Alati
Tapered finger	Alati
Broad palm	Sageli (30–79%)
Elbow flexion contracture	Sageli (30–79%)
Hip contracture	Sageli (30–79%)
Inability to straighten knee	Sageli (30–79%)
Lower limb hypertonia	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Frontal upsweep of hair	Alati
Paleness	Alati
Papule	Alati
Abnormal skin structure	Sageli (30–79%)
Ichthyosis	Sageli (30–79%)
Small nail	Sageli (30–79%)
Abnormal skin pigmentation	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Acute aspiration pneumonia	Alati
Aspiration pneumonia	Alati
Pneumonia	Alati
Psoriasiform dermatitis	Alati
Seborrheic dermatitis	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Alati
Aspiration	Alati
Respiratory tract infection	Alati
Breathing difficulty	Sageli (30–79%)
Respiratory failure	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Birth weight > 90th percentile	Alati
Short stature	Alati
Faltering weight	Mõnikord (5–29%)
General overgrowth	Mõnikord (5–29%)
Birth length greater than 97th percentile	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Väga sageli (80–99%)
Bilateral fetal pyelectasis	Sageli (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Sageli (30–79%)
Fetal distress	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Alati
Uplifted earlobe	Alati
Overfolded ears	Sageli (30–79%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Lack of energy and strength	Väga sageli (80–99%)
Chest pain	Sageli (30–79%)
Erythromelalgia	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Abnormality of the mitochondrion	Alati

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Harva (1–4%)

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

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