Trăsături

Trăsături asociate cu PIGP

phosphatidylinositol glycan anchor biosynthesis class P

Human Phenotype Ontology asociază 76 trăsături cu PIGP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Rar (1–4%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)
Decreased head circumference	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Întotdeauna
Decreased muscle tone in infant	Des (30–79%)
Poor head control	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Flexed joint that cannot be straightened	Neînregistrat
Low muscle tone in trunk	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)
Increased muscle tone of arm or leg	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Rar (1–4%)
Cerebral visual impairment	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Rar (1–4%)
Growth delay	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absent thumbnail	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PIGP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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