Atypical Rett syndrome
ORPHA:3095DiseaseAutosomal dominant, X-linked dominantNeonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MECP2 | methyl-CpG binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 300005 |
| NTNG1 | netrin G1 | Disease-causing germline mutation(s) in | gene with protein product | 608818 |
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in | gene with protein product | 300203 |
| SMC1A | structural maintenance of chromosomes 1A | Disease-causing germline mutation(s) in | gene with protein product | 300040 |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 607340 |
Фенотипы (HPO)54
Очень частый (80–99%)16
HP:0000713Agitation
HP:0000729Autistic behavior
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002371Loss of speech
HP:0002376Developmental regression
HP:0002793Abnormal pattern of respiration
HP:0004302Functional motor deficit
HP:0004305Involuntary movements
HP:0011968Feeding difficulties
HP:0012171Stereotypical hand wringing
HP:0100022Abnormality of movement
Частый (30–79%)22
HP:0000723Restrictive behavior
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001332Dystonia
HP:0001773Short foot
HP:0002066Gait ataxia
HP:0002186Apraxia
HP:0002300Mutism
HP:0002505Loss of ambulation
HP:0002540Inability to walk
HP:0002876Episodic tachypnea
HP:0002882Sudden episodic apnea
HP:0003808Abnormal muscle tone
HP:0005484Secondary microcephaly
HP:0011344Severe global developmental delay
HP:0012719Functional abnormality of the gastrointestinal tract
HP:0032588Hand apraxia
HP:0032807Neonatal seizure
HP:0045084Limb myoclonus
HP:0100703Tongue thrusting
HP:0200055Small hand
HP:0012760Reduced social responsiveness
Периодический (5–29%)15
HP:0000748Inappropriate laughter
HP:0001256Intellectual disability, mild
HP:0001319Neonatal hypotonia
HP:0001337Tremor
HP:0001510Growth delay
HP:0002123Generalized myoclonic seizure
HP:0002194Delayed gross motor development
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0007281Developmental stagnation
HP:0007328Impaired pain sensation
HP:0012469Infantile spasms
HP:0025269Panic attack
HP:0025387Pill-rolling tremor
HP:0030215Inappropriate crying
Исключён (0%)1
HP:0007824Total ophthalmoplegia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)