Egenskaber

Egenskaber knyttet til PIGA

phosphatidylinositol glycan anchor biosynthesis class A

Human Phenotype Ontology knytter 266 egenskaber til PIGA, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Laboratory abnormality

Egenskab	Hvor ofte det ses
Abnormal circulating iron concentration	Altid
Abnormal liver iron concentration	Altid
Decreased circulating hepcidin concentration	Altid
Elevated circulating iron concentration	Altid
Elevated serum ferritin	Altid
Elevated transferrin saturation	Altid
Fatty infiltration of liver	Altid
Fluid retention	Altid
Increased CSF glutamate concentration	Altid
Increased iron concentration in liver	Altid
Elevated alkaline phosphatase	Meget ofte (80–99 %)
Hemoglobin in urine	Meget ofte (80–99 %)
Decreased circulating haptoglobin concentration	Ofte (30–79 %)
Decreased circulating iron concentration	Ofte (30–79 %)
Hemosiderinuria	Ofte (30–79 %)
Increased blood urea nitrogen	Ofte (30–79 %)
Increased circulating lactate dehydrogenase concentration	Ofte (30–79 %)
Microvesicular hepatic steatosis	Ofte (30–79 %)
Unconjugated hyperbilirubinemia	Ofte (30–79 %)
High urine protein levels	Nogle gange (5–29 %)
Glucose in urine	Sjældent (1–4%)
Renal Fanconi syndrome	Sjældent (1–4%)
Hydrops fetalis	Ikke registreret
Paroxysmal nocturnal hemoglobinuria	Ikke registreret

Abnormality of the musculoskeletal system

Egenskab	Hvor ofte det ses
Abnormal shape of joints	Altid
Diffuse skeletal muscle wasting	Altid
Flexed joint that cannot be straightened	Altid
Involuntary muscle stiffness, contraction, or spasm	Altid
Limb contractures	Altid
Low muscle tone	Altid
Low muscle tone in trunk	Altid
Muscle degeneration	Altid
Opisthotonus	Altid
Permanent flexion of the finger or toe	Altid
Poor head control	Altid
Rigidity	Altid
Scoliosis	Altid
Spastic tetraplegia	Altid
Thin bony cortex	Altid
Functional motor deficit	Meget ofte (80–99 %)
Small chest	Ofte (30–79 %)
Spasticity and rigidity of muscles	Nogle gange (5–29 %)
Lower limb spasticity	Ikke registreret
Uncontrollable movement in upper arms	Ikke registreret

Abnormality of blood and blood-forming tissues

Egenskab	Hvor ofte det ses
Abnormal erythrocyte enzyme concentration or activity	Altid
Low platelet count	Altid
Stomatocytosis	Altid
Hemolytic anemia	Meget ofte (80–99 %)
Low number of red blood cells or hemoglobin	Meget ofte (80–99 %)
Blood clot in a deep vein	Ofte (30–79 %)
Blood clot in vein	Ofte (30–79 %)
Increased immature red blood cells	Ofte (30–79 %)
Thromboembolism	Ofte (30–79 %)
Blood clot in artery	Nogle gange (5–29 %)
Decreased blood leukocyte number	Nogle gange (5–29 %)
Erythroid hyperplasia	Nogle gange (5–29 %)
Low blood cell count	Nogle gange (5–29 %)
Mesenteric venous thrombosis	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Egenskab	Hvor ofte det ses
Enlarged liver and spleen	Altid
Heart stops beating	Altid
Increased spleen size	Altid
Left ventricular hypertrophy	Altid
Right ventricular hypertrophy	Altid
Ventricular arrhythmia	Altid
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Patent ductus arteriosus	Ofte (30–79 %)
Aortopulmonary collateral arteries	Nogle gange (5–29 %)
Blood clot in artery of lung	Nogle gange (5–29 %)
Budd-Chiari syndrome	Nogle gange (5–29 %)
Heart attack	Nogle gange (5–29 %)
High blood pressure	Nogle gange (5–29 %)
Stroke	Nogle gange (5–29 %)

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Abdominal bloating	Altid
Accumulation of fluid in the abdomen	Altid
Enlarged liver	Altid
Liver failure	Altid
Micronodular cirrhosis	Altid
Starry sky appearance on hepatic sonography	Altid
Intermittent abdominal pain	Ofte (30–79 %)
Jaundice	Nogle gange (5–29 %)
Painful swallowing	Nogle gange (5–29 %)
Scar tissue replaces healthy tissue in the liver	Nogle gange (5–29 %)
Esophageal spasms	Sjældent (1–4%)
Poor swallowing	Sjældent (1–4%)

Abnormality of the eye

Egenskab	Hvor ofte det ses
Abnormal macular morphology	Altid
Abnormal visual fixation	Altid
Abnormality of eye movement	Altid
Breakdown of light-sensitive cells in back of eye	Altid
Cerebral visual impairment	Altid
Close sighted	Altid
Drooping of both upper eyelids	Altid
Moderate visual impairment	Altid
Optic disc pallor	Altid
Wide-set eyes	Altid
Visual impairment	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Hydronephrosis	Altid
Testicular degeneration	Altid
Vesicoureteral reflux	Meget ofte (80–99 %)
Chronic kidney disease	Ofte (30–79 %)
Duplicated collecting system	Ofte (30–79 %)
Acute kidney injury	Nogle gange (5–29 %)
Difficulty getting a full erection	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Renal failure	Nogle gange (5–29 %)
Undescended testes	Nogle gange (5–29 %)
Short penis	Ikke registreret

Abnormality of limbs

Egenskab	Hvor ofte det ses
Abnormal feet structure	Altid
Deep palm line	Altid
Short finger	Altid
Tapered finger	Altid
Broad palm	Ofte (30–79 %)
Elbow flexion contracture	Ofte (30–79 %)
Hip contracture	Ofte (30–79 %)
Inability to straighten knee	Ofte (30–79 %)
Lower limb hypertonia	Nogle gange (5–29 %)

Abnormality of the integument

Egenskab	Hvor ofte det ses
Frontal upsweep of hair	Altid
Paleness	Altid
Papule	Altid
Abnormal skin structure	Ofte (30–79 %)
Ichthyosis	Ofte (30–79 %)
Small nail	Ofte (30–79 %)
Abnormal skin pigmentation	Ikke registreret

Abnormality of the immune system

Egenskab	Hvor ofte det ses
Acute aspiration pneumonia	Altid
Aspiration pneumonia	Altid
Pneumonia	Altid
Psoriasiform dermatitis	Altid
Seborrheic dermatitis	Ofte (30–79 %)

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Apnea	Altid
Aspiration	Altid
Respiratory tract infection	Altid
Breathing difficulty	Ofte (30–79 %)
Respiratory failure	Ofte (30–79 %)

Growth abnormality

Egenskab	Hvor ofte det ses
Birth weight > 90th percentile	Altid
Short stature	Altid
Faltering weight	Nogle gange (5–29 %)
General overgrowth	Nogle gange (5–29 %)
Birth length greater than 97th percentile	Ikke registreret

Abnormality of prenatal development or birth

Egenskab	Hvor ofte det ses
High levels of amniotic fluid	Meget ofte (80–99 %)
Bilateral fetal pyelectasis	Ofte (30–79 %)
Feet or buttocks of fetus positioned near opening of uterus	Ofte (30–79 %)
Fetal distress	Ofte (30–79 %)

Abnormality of the ear

Egenskab	Hvor ofte det ses
Hearing impairment	Altid
Uplifted earlobe	Altid
Overfolded ears	Ofte (30–79 %)

Constitutional symptom

Egenskab	Hvor ofte det ses
Lack of energy and strength	Meget ofte (80–99 %)
Chest pain	Ofte (30–79 %)
Erythromelalgia	Ofte (30–79 %)

Abnormal cellular phenotype

Egenskab	Hvor ofte det ses
Abnormality of the mitochondrion	Altid

Abnormality of the endocrine system

Egenskab	Hvor ofte det ses
Early onset of puberty	Sjældent (1–4%)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til PIGA og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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