Trăsături

Trăsături asociate cu PNKP

polynucleotide kinase 3'-phosphatase

Human Phenotype Ontology asociază 103 trăsături cu PNKP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PNKP

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent reflexes	Întotdeauna
Ataxia	Întotdeauna
Degeneration of cerebellum	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
More active than typical	Întotdeauna
Peripheral neuropathy	Întotdeauna
Ventriculomegaly	Întotdeauna
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Cognitive impairment	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Dystonia	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%)
Impaired vibratory sensation	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Abnormal pyramidal sign	Uneori (5–29%)
Atrophy/Degeneration affecting the brainstem	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Balance impairment	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Difficulty making arithmetical calculations	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%)
Nerve damage causing decreased feeling and movement	Uneori (5–29%)
Reading disability	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Somatic sensory dysfunction	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%)
Decreased motor nerve conduction velocity	Neînregistrat
Decreased sensation in extremities	Neînregistrat
Intellectual disability, severe	Neînregistrat
Motor delay	Neînregistrat
Paralysis of all four limbs	Neînregistrat
Simplified gyral pattern	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Poor head control	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Muscular dystrophy	Uneori (5–29%)
Progressive distal muscular atrophy	Uneori (5–29%)
Distal muscle wasting	Neînregistrat
Low muscle tone	Neînregistrat
Muscle degeneration	Neînregistrat
Weakness of outermost muscles	Neînregistrat

Abnormality of head or neck

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

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormalities of the toes	Uneori (5–29%)
Distal lower limb muscle weakness	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)

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 eye

Trăsătură	Cât de frecvent apare
Oculomotor apraxia	Întotdeauna
Abnormal saccadic eye movements	Uneori (5–29%)
Cross-eyed	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%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating alpha-fetoprotein concentration	Des (30–79%)
Elevated serum cholesterol	Des (30–79%)
Low albumin	Des (30–79%)

Abnormality of the cardiovascular system

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Des (30–79%)
Faltering weight	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 PNKP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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