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Trăsături

Trăsături asociate cu MTOR

mechanistic target of rapamycin kinase

Human Phenotype Ontology asociază 98 trăsături cu MTOR, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

TrăsăturăCât de frecvent apare
Intellectual disabilityÎntotdeauna
VentriculomegalyÎntotdeauna
Enlarged brainFoarte des (80–99%)
EpilepsyFoarte des (80–99%)
Hyperintensity of cerebral white matter on MRIFoarte des (80–99%)
Interictal EEG abnormalityFoarte des (80–99%)
Abnormal speech patternDes (30–79%)
EEG with burst suppressionDes (30–79%)
EEG with focal sharp slow wavesDes (30–79%)
EEG with focal spikesDes (30–79%)
EEG with polyspike wave complexesDes (30–79%)
Focal cortical dysplasiaDes (30–79%)
Focal motor seizureDes (30–79%)
Generalized-onset seizureDes (30–79%)
Global developmental delayDes (30–79%)
HemihypsarrhythmiaDes (30–79%)
HemimegalencephalyDes (30–79%)
More grooves in brainDes (30–79%)
Reduced cerebral white matter volumeDes (30–79%)
Seizure affecting one half of brainDes (30–79%)
Specific learning disabilityDes (30–79%)
Underdevelopment of part of brain called corpus callosumDes (30–79%)
Abnormal corpus callosum morphologyUneori (5–29%)
Abnormal gaitUneori (5–29%)
Abnormal neuron shapeUneori (5–29%)
Autism spectrum disorderUneori (5–29%)
Cranial nerve paralysisUneori (5–29%)
Epileptic spasmUneori (5–29%)
Fewer and broader ridges in brainUneori (5–29%)
Focal tonic seizureUneori (5–29%)
GliosisUneori (5–29%)
Gray matter heterotopiaUneori (5–29%)
Intellectual disability, severeUneori (5–29%)
JerkingUneori (5–29%)
More active than typicalUneori (5–29%)
Repeated seizures without recovery between themUneori (5–29%)
Sudden loss of muscle toneUneori (5–29%)
Weakness of one side of bodyUneori (5–29%)
AstrocytosisNeînregistrat
Cognitive impairmentNeînregistrat
Cortical dysplasiaNeînregistrat
Focal cortical dysplasia type IINeînregistrat
Focal impaired awareness seizureNeînregistrat
Focal white matter lesionsNeînregistrat
Perisylvian polymicrogyriaNeînregistrat

Abnormality of head or neck

TrăsăturăCât de frecvent apare
Big calvariaÎntotdeauna
Depressed nasal bridgeÎntotdeauna
Downward slanting of the opening between the eyelidsÎntotdeauna
High foreheadÎntotdeauna
Long philtrumÎntotdeauna
Open mouthÎntotdeauna
Short noseÎntotdeauna
Wide mouthÎntotdeauna
Abnormal facial shapeDes (30–79%)
Abnormality of head shapeDes (30–79%)
Abnormality of the skullDes (30–79%)
Frontal bossingDes (30–79%)
Prominent foreheadUneori (5–29%)
Short chinRar (1–4%)
Midface retrusionNeînregistrat
Smooth philtrumNeînregistrat
Thin red part of the upper lipNeînregistrat
Wider-than-typical soft spot of skullNeînregistrat

Abnormality of limbs

TrăsăturăCât de frecvent apare
Deep palm lineÎntotdeauna
Deep wrinkles in soles of feetÎntotdeauna
Dropped archesUneori (5–29%)
Disproportionately short upper portion of limbNeînregistrat
Short outermost finger boneNeînregistrat
Short proximal phalanx of fingerNeînregistrat

Abnormality of the digestive system

TrăsăturăCât de frecvent apare
Gap between large left and right abdominal musclesÎntotdeauna
Umbilical herniaÎntotdeauna
Belly sticks outUneori (5–29%)
Lactose intoleranceUneori (5–29%)
Intestinal polypRar (1–4%)
Feeding difficultiesNeînregistrat

Abnormality of the eye

TrăsăturăCât de frecvent apare
Wide-set eyesÎntotdeauna
Cross-eyedUneori (5–29%)
HemianopiaUneori (5–29%)
Oculomotor nerve palsyUneori (5–29%)
Optic atrophyUneori (5–29%)

Abnormality of the integument

TrăsăturăCât de frecvent apare
BirthmarkDes (30–79%)
Curly hairDes (30–79%)
Capillary malformationUneori (5–29%)
Patchy loss of skin colorUneori (5–29%)

Abnormality of the musculoskeletal system

TrăsăturăCât de frecvent apare
Small chestÎntotdeauna
Functional motor deficitUneori (5–29%)
Low muscle toneUneori (5–29%)
Generalized decreased muscle toneNeînregistrat

Abnormality of the genitourinary system

TrăsăturăCât de frecvent apare
Undescended testesUneori (5–29%)
HypospadiasRar (1–4%)

Abnormality of the immune system

TrăsăturăCât de frecvent apare
AsthmaUneori (5–29%)
AllergyRar (1–4%)

Laboratory abnormality

TrăsăturăCât de frecvent apare
Low blood sugar in newbornRar (1–4%)
Low blood sugarNeînregistrat

Abnormal cellular phenotype

TrăsăturăCât de frecvent apare
Decreased circulating IgA concentrationÎntotdeauna

Abnormality of blood and blood-forming tissues

TrăsăturăCât de frecvent apare
Low platelet countNeînregistrat

Abnormality of the cardiovascular system

TrăsăturăCât de frecvent apare
Strawberry markUneori (5–29%)

Growth abnormality

TrăsăturăCât de frecvent apare
Birth weight > 90th percentileDes (30–79%)

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 MTOR și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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