Egenskaper

Egenskaper kopplade till PIGA

phosphatidylinositol glycan anchor biosynthesis class A

Human Phenotype Ontology kopplar 266 egenskaper till PIGA, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Abnormal circulating iron concentration	Alltid
Abnormal liver iron concentration	Alltid
Decreased circulating hepcidin concentration	Alltid
Elevated circulating iron concentration	Alltid
Elevated serum ferritin	Alltid
Elevated transferrin saturation	Alltid
Fatty infiltration of liver	Alltid
Fluid retention	Alltid
Increased CSF glutamate concentration	Alltid
Increased iron concentration in liver	Alltid
Elevated alkaline phosphatase	Mycket ofta (80–99 %)
Hemoglobin in urine	Mycket ofta (80–99 %)
Decreased circulating haptoglobin concentration	Ofta (30–79 %)
Decreased circulating iron concentration	Ofta (30–79 %)
Hemosiderinuria	Ofta (30–79 %)
Increased blood urea nitrogen	Ofta (30–79 %)
Increased circulating lactate dehydrogenase concentration	Ofta (30–79 %)
Microvesicular hepatic steatosis	Ofta (30–79 %)
Unconjugated hyperbilirubinemia	Ofta (30–79 %)
High urine protein levels	Ibland (5–29 %)
Glucose in urine	Sällan (1–4%)
Renal Fanconi syndrome	Sällan (1–4%)
Hydrops fetalis	Inte registrerat
Paroxysmal nocturnal hemoglobinuria	Inte registrerat

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Abnormal shape of joints	Alltid
Diffuse skeletal muscle wasting	Alltid
Flexed joint that cannot be straightened	Alltid
Involuntary muscle stiffness, contraction, or spasm	Alltid
Limb contractures	Alltid
Low muscle tone	Alltid
Low muscle tone in trunk	Alltid
Muscle degeneration	Alltid
Opisthotonus	Alltid
Permanent flexion of the finger or toe	Alltid
Poor head control	Alltid
Rigidity	Alltid
Scoliosis	Alltid
Spastic tetraplegia	Alltid
Thin bony cortex	Alltid
Functional motor deficit	Mycket ofta (80–99 %)
Small chest	Ofta (30–79 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)
Lower limb spasticity	Inte registrerat
Uncontrollable movement in upper arms	Inte registrerat

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Abnormal erythrocyte enzyme concentration or activity	Alltid
Low platelet count	Alltid
Stomatocytosis	Alltid
Hemolytic anemia	Mycket ofta (80–99 %)
Low number of red blood cells or hemoglobin	Mycket ofta (80–99 %)
Blood clot in a deep vein	Ofta (30–79 %)
Blood clot in vein	Ofta (30–79 %)
Increased immature red blood cells	Ofta (30–79 %)
Thromboembolism	Ofta (30–79 %)
Blood clot in artery	Ibland (5–29 %)
Decreased blood leukocyte number	Ibland (5–29 %)
Erythroid hyperplasia	Ibland (5–29 %)
Low blood cell count	Ibland (5–29 %)
Mesenteric venous thrombosis	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Enlarged liver and spleen	Alltid
Heart stops beating	Alltid
Increased spleen size	Alltid
Left ventricular hypertrophy	Alltid
Right ventricular hypertrophy	Alltid
Ventricular arrhythmia	Alltid
An opening in the wall separating the top two chambers of the heart	Ofta (30–79 %)
Patent ductus arteriosus	Ofta (30–79 %)
Aortopulmonary collateral arteries	Ibland (5–29 %)
Blood clot in artery of lung	Ibland (5–29 %)
Budd-Chiari syndrome	Ibland (5–29 %)
Heart attack	Ibland (5–29 %)
High blood pressure	Ibland (5–29 %)
Stroke	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Abdominal bloating	Alltid
Accumulation of fluid in the abdomen	Alltid
Enlarged liver	Alltid
Liver failure	Alltid
Micronodular cirrhosis	Alltid
Starry sky appearance on hepatic sonography	Alltid
Intermittent abdominal pain	Ofta (30–79 %)
Jaundice	Ibland (5–29 %)
Painful swallowing	Ibland (5–29 %)
Scar tissue replaces healthy tissue in the liver	Ibland (5–29 %)
Esophageal spasms	Sällan (1–4%)
Poor swallowing	Sällan (1–4%)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Abnormal macular morphology	Alltid
Abnormal visual fixation	Alltid
Abnormality of eye movement	Alltid
Breakdown of light-sensitive cells in back of eye	Alltid
Cerebral visual impairment	Alltid
Close sighted	Alltid
Drooping of both upper eyelids	Alltid
Moderate visual impairment	Alltid
Optic disc pallor	Alltid
Wide-set eyes	Alltid
Visual impairment	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Hydronephrosis	Alltid
Testicular degeneration	Alltid
Vesicoureteral reflux	Mycket ofta (80–99 %)
Chronic kidney disease	Ofta (30–79 %)
Duplicated collecting system	Ofta (30–79 %)
Acute kidney injury	Ibland (5–29 %)
Difficulty getting a full erection	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Renal failure	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)
Short penis	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Abnormal feet structure	Alltid
Deep palm line	Alltid
Short finger	Alltid
Tapered finger	Alltid
Broad palm	Ofta (30–79 %)
Elbow flexion contracture	Ofta (30–79 %)
Hip contracture	Ofta (30–79 %)
Inability to straighten knee	Ofta (30–79 %)
Lower limb hypertonia	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Frontal upsweep of hair	Alltid
Paleness	Alltid
Papule	Alltid
Abnormal skin structure	Ofta (30–79 %)
Ichthyosis	Ofta (30–79 %)
Small nail	Ofta (30–79 %)
Abnormal skin pigmentation	Inte registrerat

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Acute aspiration pneumonia	Alltid
Aspiration pneumonia	Alltid
Pneumonia	Alltid
Psoriasiform dermatitis	Alltid
Seborrheic dermatitis	Ofta (30–79 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Apnea	Alltid
Aspiration	Alltid
Respiratory tract infection	Alltid
Breathing difficulty	Ofta (30–79 %)
Respiratory failure	Ofta (30–79 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Birth weight > 90th percentile	Alltid
Short stature	Alltid
Faltering weight	Ibland (5–29 %)
General overgrowth	Ibland (5–29 %)
Birth length greater than 97th percentile	Inte registrerat

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
High levels of amniotic fluid	Mycket ofta (80–99 %)
Bilateral fetal pyelectasis	Ofta (30–79 %)
Feet or buttocks of fetus positioned near opening of uterus	Ofta (30–79 %)
Fetal distress	Ofta (30–79 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Hearing impairment	Alltid
Uplifted earlobe	Alltid
Overfolded ears	Ofta (30–79 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Lack of energy and strength	Mycket ofta (80–99 %)
Chest pain	Ofta (30–79 %)
Erythromelalgia	Ofta (30–79 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Abnormality of the mitochondrion	Alltid

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Early onset of puberty	Sällan (1–4%)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till PIGA och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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