Trăsături

Trăsături asociate cu MTHFR

methylenetetrahydrofolate reductase

Human Phenotype Ontology asociază 85 trăsături cu MTHFR, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MTHFR

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Behavioral abnormality	Foarte des (80–99%)
Morphological central nervous system abnormality	Foarte des (80–99%)
Upper motor neuron dysfunction	Foarte des (80–99%)
Abnormal periventricular white matter morphology	Des (30–79%)
Abnormal shape of brain	Des (30–79%)
Absent/small cerebellum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Ataxia	Des (30–79%)
Brain imaging abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Holoprosencephaly	Des (30–79%)
Mental deterioration	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Psychotic episodes	Des (30–79%)
Abnormal cerebral white matter morphology	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Degeneration of the spinal cord	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Headache	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Psychotic mentation	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Weakness of one side of body	Uneori (5–29%)
Brief seizures with staring spells	Rar (1–4%)
Encephalopathy	Rar (1–4%)
Generalized myoclonic seizure	Rar (1–4%)
Too much cerebrospinal fluid in the brain	Rar (1–4%)
Ventriculomegaly	Rar (1–4%)
Delusions	Neînregistrat
EEG abnormality	Neînregistrat
Hallucinations	Neînregistrat
Incoordination	Neînregistrat
Negativism	Neînregistrat
Pins and needles feeling	Neînregistrat
Schizophrenia	Neînregistrat
Social and occupational deterioration	Neînregistrat
Spinal dysraphism	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of cranium	Des (30–79%)
Abnormality of the skull	Des (30–79%)
Decreased size of bone of forehead	Des (30–79%)
Abnormality of facial bones	Uneori (5–29%)
Cleft lip	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Abnormally small head	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal blood clot	Uneori (5–29%)
Blood clot in a deep vein	Uneori (5–29%)
Thromboembolic stroke	Uneori (5–29%)
Blood clot in cerebral vein	Neînregistrat
Recurrent thrombophlebitis	Neînregistrat
Thromboembolism	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormal circulating enzyme concentration or activity	Foarte des (80–99%)
Elevated blood homocystine	Foarte des (80–99%)
High blood cystathionine levels	Foarte des (80–99%)
High urine homocystine levels	Foarte des (80–99%)
Decreased plasma methionine	Des (30–79%)
Laboratory abnormality	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Lower limb spasticity	Foarte des (80–99%)
Spastic paraparesis	Des (30–79%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Generalized low muscle tone in neonate	Uneori (5–29%)
Muscle weakness	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Des (30–79%)
Abnormality of the eye	Rar (1–4%)
Involuntary, rapid, rhythmic eye movements	Rar (1–4%)
Optic atrophy	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged thymus	Uneori (5–29%)
Stroke	Rar (1–4%)
Blood clot in artery of lung	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Small adrenal glands	Des (30–79%)
Posterior pituitary agenesis	Uneori (5–29%)
Underdeveloped pituitary gland	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Uneori (5–29%)
Omphalocele	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)
Faltering weight	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Lower limb muscle weakness	Foarte des (80–99%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Uneori (5–29%)

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

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