Kjennetegn

Kjennetegn knyttet til PIGA

phosphatidylinositol glycan anchor biosynthesis class A

Human Phenotype Ontology knytter 266 kjennetegn til PIGA, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
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	Svært ofte (80–99 %)
Infantile spasms	Svært ofte (80–99 %)
Multifocal epileptiform discharges	Svært ofte (80–99 %)
Neurodevelopmental delay	Svært 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	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Delayed myelination	Noen ganger (5–29 %)
Epileptic spasm	Noen ganger (5–29 %)
Lethargy	Noen ganger (5–29 %)
Abnormal pons morphology	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
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	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	Noen ganger (5–29 %)
Big calvaria	Ikke registrert
Increased head circumference	Ikke registrert
Little lower jaw	Ikke registrert
Triangular mouth	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
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	Svært ofte (80–99 %)
Hemoglobin in urine	Svært 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	Noen ganger (5–29 %)
Glucose in urine	Sjelden (1–4%)
Renal Fanconi syndrome	Sjelden (1–4%)
Hydrops fetalis	Ikke registrert
Paroxysmal nocturnal hemoglobinuria	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
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	Svært ofte (80–99 %)
Small chest	Ofte (30–79 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)
Lower limb spasticity	Ikke registrert
Uncontrollable movement in upper arms	Ikke registrert

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Abnormal erythrocyte enzyme concentration or activity	Alltid
Low platelet count	Alltid
Stomatocytosis	Alltid
Hemolytic anemia	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Svært 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	Noen ganger (5–29 %)
Decreased blood leukocyte number	Noen ganger (5–29 %)
Erythroid hyperplasia	Noen ganger (5–29 %)
Low blood cell count	Noen ganger (5–29 %)
Mesenteric venous thrombosis	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
Patent ductus arteriosus	Ofte (30–79 %)
Aortopulmonary collateral arteries	Noen ganger (5–29 %)
Blood clot in artery of lung	Noen ganger (5–29 %)
Budd-Chiari syndrome	Noen ganger (5–29 %)
Heart attack	Noen ganger (5–29 %)
High blood pressure	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
Jaundice	Noen ganger (5–29 %)
Painful swallowing	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)
Esophageal spasms	Sjelden (1–4%)
Poor swallowing	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
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	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Hydronephrosis	Alltid
Testicular degeneration	Alltid
Vesicoureteral reflux	Svært ofte (80–99 %)
Chronic kidney disease	Ofte (30–79 %)
Duplicated collecting system	Ofte (30–79 %)
Acute kidney injury	Noen ganger (5–29 %)
Difficulty getting a full erection	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Short penis	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Abnormal feet structure	Alltid
Deep palm line	Alltid
Short finger	Alltid
Tapered finger	Alltid
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	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Frontal upsweep of hair	Alltid
Paleness	Alltid
Papule	Alltid
Abnormal skin structure	Ofte (30–79 %)
Ichthyosis	Ofte (30–79 %)
Small nail	Ofte (30–79 %)
Abnormal skin pigmentation	Ikke registrert

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Acute aspiration pneumonia	Alltid
Aspiration pneumonia	Alltid
Pneumonia	Alltid
Psoriasiform dermatitis	Alltid
Seborrheic dermatitis	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Alltid
Aspiration	Alltid
Respiratory tract infection	Alltid
Breathing difficulty	Ofte (30–79 %)
Respiratory failure	Ofte (30–79 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Birth weight > 90th percentile	Alltid
Short stature	Alltid
Faltering weight	Noen ganger (5–29 %)
General overgrowth	Noen ganger (5–29 %)
Birth length greater than 97th percentile	Ikke registrert

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
High levels of amniotic fluid	Svært 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

Kjennetegn	Hvor ofte den forekommer
Hearing impairment	Alltid
Uplifted earlobe	Alltid
Overfolded ears	Ofte (30–79 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Lack of energy and strength	Svært ofte (80–99 %)
Chest pain	Ofte (30–79 %)
Erythromelalgia	Ofte (30–79 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Abnormality of the mitochondrion	Alltid

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Sjelden (1–4%)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til PIGA og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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