Trăsături

Trăsături asociate cu MECP2

methyl-CpG binding protein 2

Human Phenotype Ontology asociază 250 trăsături cu MECP2, 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
Absent speech development	Întotdeauna
Apraxia	Întotdeauna
Brief seizures with staring spells	Întotdeauna
Delayed ability to roll over	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Delayed speech and language development	Întotdeauna
Dystonia	Întotdeauna
Encephalopathy	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Intellectual disability, mild	Întotdeauna
Intellectual disability, severe	Întotdeauna
IQ less than 20	Întotdeauna
Loss of developmental milestones	Întotdeauna
Persistent head lag	Întotdeauna
Poor eye contact	Întotdeauna
Progressive degeneration of movement	Întotdeauna
Repeated seizures without recovery between them	Întotdeauna
Repetitive compulsive behavior	Întotdeauna
Resting tremor	Întotdeauna
Restlessness	Întotdeauna
Severe global developmental delay	Întotdeauna
Slow movements	Întotdeauna
Stereotypical hand wringing	Întotdeauna
Tonic seizure	Întotdeauna
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Abnormality of movement	Foarte des (80–99%)
Agitation	Foarte des (80–99%)
Autism spectrum disorder	Foarte des (80–99%)
Chorea	Foarte des (80–99%)
Difficulty sleeping	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Hyperactive deep tendon reflexes	Foarte des (80–99%)
Involuntary movements	Foarte des (80–99%)
Irritability	Foarte des (80–99%)
Loss of acquired spoken language	Foarte des (80–99%)
Loss of speech	Foarte des (80–99%)
More active than typical	Foarte des (80–99%)
Progressive language deterioration	Foarte des (80–99%)
Recurrent hand flapping	Foarte des (80–99%)
Repetitive movements	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Anxiety	Des (30–79%)
Bipolar disorder	Des (30–79%)
Choreoathetosis	Des (30–79%)
EEG with focal slow activity	Des (30–79%)
EEG with generalized slow activity	Des (30–79%)
Focal EEG discharges with secondary generalization	Des (30–79%)
Grand mal seizures	Des (30–79%)
Hand apraxia	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Inability to speak	Des (30–79%)
Inability to walk	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Limb apraxia	Des (30–79%)
Limb myoclonus	Des (30–79%)
Loss of ability to walk	Des (30–79%)
Loss of acquired purposeful hand skills	Des (30–79%)
Neonatal seizure	Des (30–79%)
Overactive lower leg reflex	Des (30–79%)
Pain insensitivity	Des (30–79%)
Poor social interactions	Des (30–79%)
Restrictive behavior	Des (30–79%)
Teeth grinding	Des (30–79%)
Tongue thrusting	Des (30–79%)
Tremor	Des (30–79%)
Abnormal autonomic nervous system physiology	Uneori (5–29%)
Abnormal fear-induced behavior	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Delayed motor skills	Uneori (5–29%)
Depression	Uneori (5–29%)
Developmental stagnation	Uneori (5–29%)
Generalized myoclonic seizure	Uneori (5–29%)
Impaired pain sensation	Uneori (5–29%)
Inappropriate crying	Uneori (5–29%)
Inappropriate laughter	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
More grooves in brain	Uneori (5–29%)
Multifocal epileptiform discharges	Uneori (5–29%)
Panic attack	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Pill-rolling tremor	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Shuffled walk	Uneori (5–29%)
Stooped posture	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
Ataxia	Neînregistrat
Autism	Neînregistrat
Babinski sign	Neînregistrat
Boiling mad	Neînregistrat
Decrease in size of the outer layer of the brain due to loss of brain cells	Neînregistrat
Gait apraxia	Neînregistrat
Impaired use of nonverbal behaviors	Neînregistrat
Increased reflexes	Neînregistrat
Inflexible adherence to routines	Neînregistrat
Instability or lack of coordination of central trunk muscles	Neînregistrat
Jerking	Neînregistrat
Lack of peer relationships	Neînregistrat
Lack of spontaneous play	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Decreased facial muscle tone	Întotdeauna
Drooling	Întotdeauna
Zygomatic flattening	Întotdeauna
Drooping lower lip	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Narrow opening between the eyelids	Foarte des (80–99%)
Progressively abnormally small cranium	Foarte des (80–99%)
Tented mouth	Foarte des (80–99%)
Development of small head that was not present at birth	Des (30–79%)
Midface retrusion	Des (30–79%)
Abnormal color of the oral mucosa	Uneori (5–29%)
Abnormality of salivation	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
High palate	Uneori (5–29%)
Inflammation of the lips	Uneori (5–29%)
Mouth sore	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Small head present at birth	Rar (1–4%)
Abnormal dentition	Neînregistrat
Depressed nasal bridge	Neînregistrat
Disturbance of facial expression	Neînregistrat
Excessive salivation	Neînregistrat
Little lower jaw	Neînregistrat
Narrow mouth	Neînregistrat
Short neck	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Întotdeauna
Flexed joint that cannot be straightened	Întotdeauna
Low muscle tone	Întotdeauna
Low muscle tone in trunk	Întotdeauna
Scoliosis	Întotdeauna
Spastic paraplegia	Întotdeauna
Spastic tetraplegia	Întotdeauna
Delayed bone maturation	Foarte des (80–99%)
Functional motor deficit	Foarte des (80–99%)
Lower limb spasticity	Foarte des (80–99%)
Abnormal muscle tone	Des (30–79%)
Arthritis	Des (30–79%)
Funnel chest	Des (30–79%)
Generalized low muscle tone in neonate	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Muscle degeneration	Des (30–79%)
Polyarticular arthritis	Des (30–79%)
Hunched back	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)
Progressive spasticity	Neînregistrat
Rigidity	Neînregistrat
Spastic walk	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Severe infection	Întotdeauna
Antinuclear antibody positivity	Foarte des (80–99%)
Anti-complement component C1q antibody positivity	Des (30–79%)
Anti-ribosome Po antibody positivity	Des (30–79%)
Anti-titin antibody positivity	Des (30–79%)
Antineutrophil antibody positivity	Des (30–79%)
Decreased circulating complement C3 concentration	Des (30–79%)
Decreased circulating complement C4 concentration	Des (30–79%)
Malar rash	Des (30–79%)
Recurrent infections	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)
Anti-dsDNA antibody positivity	Uneori (5–29%)
Anti-La/SS-B antibody positivity	Uneori (5–29%)
Anti-nucleoporin 62 antibody positivity	Uneori (5–29%)
Anti-phosphatidic acid antibody positivity	Uneori (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Uneori (5–29%)
Anti-Sm antibody positivity	Uneori (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Uneori (5–29%)
Discoid lupus rash	Uneori (5–29%)
Serositis	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Anorexia	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Chronic constipation	Des (30–79%)
Constipation	Des (30–79%)
Functional abnormality of the gastrointestinal tract	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Hernia of the abdominal wall	Des (30–79%)
Poor suck	Des (30–79%)
Gallbladder inflammation	Uneori (5–29%)
Feeding difficulties in infancy	Neînregistrat
Poor swallowing	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fever	Foarte des (80–99%)
High urine protein levels	Foarte des (80–99%)
Blood in urine	Des (30–79%)
High urine neutrophil count	Des (30–79%)
Abnormal CSF pyruvate family amino acid concentration	Uneori (5–29%)
High blood ammonia levels	Uneori (5–29%)
Higher than normal levels of lactate in blood	Uneori (5–29%)
Increased circulating pyruvate concentration	Uneori (5–29%)
Increased CSF lactate	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac failure	Des (30–79%)
High blood pressure	Des (30–79%)
Raynaud phenomenon	Des (30–79%)
Stroke	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Abnormal T-wave	Neînregistrat
Prolonged QTc interval	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Întotdeauna
Intermittent overbreathing	Întotdeauna
Abnormal pattern of respiration	Foarte des (80–99%)
Respiratory function loss	Foarte des (80–99%)
Episodic tachypnea	Des (30–79%)
Sudden episodic apnea	Des (30–79%)
Central hypoventilation	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Decreased body weight	Întotdeauna
Short stature	Foarte des (80–99%)
Weight loss	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Obesity	Uneori (5–29%)
Wasting syndrome	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Small hand	Întotdeauna
Wrist flexion contracture	Întotdeauna
Short foot	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Webbed skin of 2nd-3rd toes	Uneori (5–29%)
High-arched foot	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Foarte des (80–99%)
Juvenile cataract	Des (30–79%)
Noninflammatory retina disease	Rar (1–4%)
Total ophthalmoplegia	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Foarte des (80–99%)
Large testis	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Lupus nephritis	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Decreased blood leukocyte number	Des (30–79%)
Hemolytic anemia	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Increased serum serotonin	Des (30–79%)
Decreased function of male gonad	Uneori (5–29%)
Increased serum leptin	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Malaise	Foarte des (80–99%)
Coldness	Des (30–79%)

Abnormality of the ear

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

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hair loss	Des (30–79%)
Photosensitive skin	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome segregation	Foarte des (80–99%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Enlarged male breast	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
High-pitched cry	Foarte des (80–99%)

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 MECP2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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