Alternating hemiplegia of childhood
ORPHA:2131DiseaseAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Candidate gene tested in | gene with protein product | 601011 |
| ATP1A2 | ATPase Na+/K+ transporting subunit alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 182340 |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 182350 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 182390 |
| SLC2A1 | solute carrier family 2 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 138140 |
| MT-TL2 | mitochondrially encoded tRNA-Leu (CUN) 2 | Disease-causing germline mutation(s) in | Non-coding RNA | 590055 |
| SLC1A3 | solute carrier family 1 member 3 | Candidate gene tested in | gene with protein product | 600111 |
| RHOBTB2 | Rho related BTB domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 607352 |
Фенотипы (HPO)65
Очень частый (80–99%)3
HP:0002579Gastrointestinal dysmotility
HP:0011024Abnormality of the gastrointestinal tract
HP:0012194Episodic hemiplegia
Частый (30–79%)24
HP:0000565Esotropia
HP:0000577Exotropia
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0000980Pallor
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002039Anorexia
HP:0002273Tetraparesis
HP:0003270Abdominal distention
HP:0011499Mydriasis
HP:0012332Abnormal autonomic nervous system physiology
HP:0012547Abnormal involuntary eye movements
HP:0012758Neurodevelopmental delay
HP:0031284Flushing
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)34
HP:0000297Facial hypotonia
HP:0000348High forehead
HP:0000657Oculomotor apraxia
HP:0000712Emotional lability
HP:0000718Aggressive behavior
HP:0000975Hyperhidrosis
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001266Choreoathetosis
HP:0001284Areflexia
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0001944Dehydration
HP:0002063Rigidity
HP:0002069Bilateral tonic-clonic seizure
HP:0002072Chorea
HP:0002098Respiratory distress
HP:0002104Apnea
HP:0002133Status epilepticus
HP:0002263Exaggerated cupid's bow
HP:0002315Headache
HP:0002344Progressive neurologic deterioration
HP:0002483Bulbar signs
HP:0002714Downturned corners of mouth
HP:0002835Aspiration
HP:0005135Abnormal T-wave
HP:0007166Paroxysmal dyskinesia
HP:0007256Abnormal pyramidal sign
HP:0011153Focal motor seizure
HP:0031546Cardiac conduction abnormality
HP:0031931Ocular flutter
HP:0032649Skewfoot
HP:0045074Thin eyebrow
HP:0100710Impulsivity
Очень редкий (1–4%)2
HP:0001638Cardiomyopathy
HP:0011675Arrhythmia
Исключён (0%)2
HP:0002353EEG abnormality
HP:0410263Brain imaging abnormality
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.94 | Denmark | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)