Traits

Traits linked to PIGP

phosphatidylinositol glycan anchor biosynthesis class P

The Human Phenotype Ontology links 76 traits to PIGP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Epilepsy	Visada
Epileptic encephalopathy	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Generalized myoclonic seizure	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Difficulty sleeping	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
EEG with burst suppression	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Autism spectrum disorder	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Choreoathetosis	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Diffuse cerebral atrophy	Kartais (5–29%)
Diffuse white matter abnormalities	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Episodic ataxia	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Fewer and broader ridges in brain	Kartais (5–29%)
Generalized clonic seizure	Kartais (5–29%)
Generalized tonic seizure	Kartais (5–29%)
Grand mal seizures	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Jerking	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Seizure affecting one half of brain	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Tremor	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Kartais (5–29%)
Dystonia	Retai (1–4 %)
Absent speech development	Neužfiksuota
Clonus	Neužfiksuota
Inability to walk	Neužfiksuota
IQ less than 20	Neužfiksuota
Multifocal epileptiform discharges	Neužfiksuota
Poor eye contact	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Retai (1–4 %)
Cleft palate	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Sloping forehead	Retai (1–4 %)
Decreased head circumference	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Double-Jointed	Visada
Decreased muscle tone in infant	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Flexed joint that cannot be straightened	Neužfiksuota
Low muscle tone in trunk	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Broad finger	Retai (1–4 %)
Short finger	Retai (1–4 %)
Wide toe bones	Retai (1–4 %)
Increased muscle tone of arm or leg	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Umbilical hernia	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Renal dysplasia	Retai (1–4 %)
Short penis	Retai (1–4 %)
Ureterocele	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Retai (1–4 %)
Cerebral visual impairment	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Retai (1–4 %)
Growth delay	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Absent thumbnail	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PIGP and how often each is seen. Find out more at hpo.jax.org.

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