Tunnused

Geeniga MECP2 seotud tunnused

methyl-CpG binding protein 2

Inimese fenotüübi ontoloogia seostab geeniga MECP2 250 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Decreased facial muscle tone	Alati
Drooling	Alati
Zygomatic flattening	Alati
Drooping lower lip	Väga sageli (80–99%)
Eye folds	Väga sageli (80–99%)
Narrow opening between the eyelids	Väga sageli (80–99%)
Progressively abnormally small cranium	Väga sageli (80–99%)
Tented mouth	Väga sageli (80–99%)
Development of small head that was not present at birth	Sageli (30–79%)
Midface retrusion	Sageli (30–79%)
Abnormal color of the oral mucosa	Mõnikord (5–29%)
Abnormality of salivation	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Broad head shape	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Inflammation of the lips	Mõnikord (5–29%)
Mouth sore	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Prominent nasal bridge	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Widely spaced teeth	Mõnikord (5–29%)
Small head present at birth	Harva (1–4%)
Abnormal dentition	Pole registreeritud
Depressed nasal bridge	Pole registreeritud
Disturbance of facial expression	Pole registreeritud
Excessive salivation	Pole registreeritud
Little lower jaw	Pole registreeritud
Narrow mouth	Pole registreeritud
Short neck	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Alati
Flexed joint that cannot be straightened	Alati
Low muscle tone	Alati
Low muscle tone in trunk	Alati
Scoliosis	Alati
Spastic paraplegia	Alati
Spastic tetraplegia	Alati
Delayed bone maturation	Väga sageli (80–99%)
Functional motor deficit	Väga sageli (80–99%)
Lower limb spasticity	Väga sageli (80–99%)
Abnormal muscle tone	Sageli (30–79%)
Arthritis	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Generalized low muscle tone in neonate	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Polyarticular arthritis	Sageli (30–79%)
Hunched back	Mõnikord (5–29%)
Joint stiffness	Mõnikord (5–29%)
Kyphoscoliosis	Mõnikord (5–29%)
Low muscle tone, in neonatal onset	Mõnikord (5–29%)
Progressive spasticity	Pole registreeritud
Rigidity	Pole registreeritud
Spastic walk	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Severe infection	Alati
Antinuclear antibody positivity	Väga sageli (80–99%)
Anti-complement component C1q antibody positivity	Sageli (30–79%)
Anti-ribosome Po antibody positivity	Sageli (30–79%)
Anti-titin antibody positivity	Sageli (30–79%)
Antineutrophil antibody positivity	Sageli (30–79%)
Decreased circulating complement C3 concentration	Sageli (30–79%)
Decreased circulating complement C4 concentration	Sageli (30–79%)
Malar rash	Sageli (30–79%)
Recurrent infections	Sageli (30–79%)
Recurrent respiratory infections	Sageli (30–79%)
Anti-dsDNA antibody positivity	Mõnikord (5–29%)
Anti-La/SS-B antibody positivity	Mõnikord (5–29%)
Anti-nucleoporin 62 antibody positivity	Mõnikord (5–29%)
Anti-phosphatidic acid antibody positivity	Mõnikord (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Mõnikord (5–29%)
Anti-Sm antibody positivity	Mõnikord (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Mõnikord (5–29%)
Discoid lupus rash	Mõnikord (5–29%)
Serositis	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Anorexia	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Chronic constipation	Sageli (30–79%)
Constipation	Sageli (30–79%)
Functional abnormality of the gastrointestinal tract	Sageli (30–79%)
Gastrostomy tube feeding in infancy	Sageli (30–79%)
Hernia of the abdominal wall	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Gallbladder inflammation	Mõnikord (5–29%)
Feeding difficulties in infancy	Pole registreeritud
Poor swallowing	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fever	Väga sageli (80–99%)
High urine protein levels	Väga sageli (80–99%)
Blood in urine	Sageli (30–79%)
High urine neutrophil count	Sageli (30–79%)
Abnormal CSF pyruvate family amino acid concentration	Mõnikord (5–29%)
High blood ammonia levels	Mõnikord (5–29%)
Higher than normal levels of lactate in blood	Mõnikord (5–29%)
Increased circulating pyruvate concentration	Mõnikord (5–29%)
Increased CSF lactate	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cardiac failure	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Raynaud phenomenon	Sageli (30–79%)
Stroke	Mõnikord (5–29%)
Swollen lymph nodes	Mõnikord (5–29%)
Abnormal T-wave	Pole registreeritud
Prolonged QTc interval	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Alati
Intermittent overbreathing	Alati
Abnormal pattern of respiration	Väga sageli (80–99%)
Respiratory function loss	Väga sageli (80–99%)
Episodic tachypnea	Sageli (30–79%)
Sudden episodic apnea	Sageli (30–79%)
Central hypoventilation	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Alati
Short stature	Väga sageli (80–99%)
Weight loss	Väga sageli (80–99%)
Faltering weight	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Obesity	Mõnikord (5–29%)
Wasting syndrome	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Small hand	Alati
Wrist flexion contracture	Alati
Short foot	Sageli (30–79%)
Curvature of little finger	Mõnikord (5–29%)
Webbed skin of 2nd-3rd toes	Mõnikord (5–29%)
High-arched foot	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping upper eyelid	Väga sageli (80–99%)
Juvenile cataract	Sageli (30–79%)
Noninflammatory retina disease	Harva (1–4%)
Total ophthalmoplegia	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Väga sageli (80–99%)
Large testis	Väga sageli (80–99%)
Undescended testes	Väga sageli (80–99%)
Lupus nephritis	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Decreased blood leukocyte number	Sageli (30–79%)
Hemolytic anemia	Mõnikord (5–29%)
Low platelet count	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Increased serum serotonin	Sageli (30–79%)
Decreased function of male gonad	Mõnikord (5–29%)
Increased serum leptin	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Väga sageli (80–99%)
Malaise	Väga sageli (80–99%)
Coldness	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large ears	Mõnikord (5–29%)
Low-set ears	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Hair loss	Sageli (30–79%)
Photosensitive skin	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Abnormality of chromosome segregation	Väga sageli (80–99%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Enlarged male breast	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
High-pitched cry	Väga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MECP2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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