상염색체 열성
만성 상기도 및 하기도 질환을 특징으로 하는 희귀 유전질환으로, 유전적 원인이 다양하며 주로 호흡기에 증상이 나타납니다. 원발성 섬모 운동이상증 환자의 약 절반에서 장기 좌우 배열 이상(완전 내장 전위증 또는 불완전 내장 전위증/이형성증)이 나타납니다.
분석 유전자
다른 명칭
bronchiectasis, chronic sinusitis and dextrocardia syndrome; ciliary dyskinesia primary; Dextrocardia bronchiectasis and sinusitis; Dextrocardia-bronchiectasis-sinusitis syndrome; ICS; Immotile cilia syndrome, Kartagener type; Kartagener syndrome; Kartagener's syndrome; PCD; Primary ciliary dyskinesia and situs inversus; Primary ciliary dyskinesia, Kartagener type; Siewert syndrome
관련 하위 유형 60개 포함 ↓하위 유형 숨기기 ↑
- CFAP46-related primary ciliary dyskinesia
- ciliary discoordination due to random ciliary orientation
- ciliary dyskinesia with defective radial spokes
- ciliary dyskinesia with excessively long cilia
- ciliary dyskinesia with transposition of ciliary microtubules
- ciliary dyskinesia, primary, 36, X-linked
- ciliary dyskinesia, primary, 37
- ciliary dyskinesia, primary, 38
- ciliary dyskinesia, primary, 39
- ciliary dyskinesia, primary, 40
- ciliary dyskinesia, primary, 41
- ciliary dyskinesia, primary, 42
- ciliary dyskinesia, primary, 43
- ciliary dyskinesia, primary, 44
- ciliary dyskinesia, primary, 45
- ciliary dyskinesia, primary, 46
- ciliary dyskinesia, primary, 47, and lissencephaly
- ciliary dyskinesia, primary, 48, without situs inversus
- ciliary dyskinesia, primary, 49, without situs inversus
- ciliary dyskinesia, primary, 50
- ciliary dyskinesia, primary, 51
- ciliary dyskinesia, primary, 52
- ciliary dyskinesia, primary, 53
- ciliary dyskinesia, primary, 54
- primary ciliary dyskinesia 1
- primary ciliary dyskinesia 10
- primary ciliary dyskinesia 11
- primary ciliary dyskinesia 12
- primary ciliary dyskinesia 13
- primary ciliary dyskinesia 14
- primary ciliary dyskinesia 15
- primary ciliary dyskinesia 16
- primary ciliary dyskinesia 17
- primary ciliary dyskinesia 18
- primary ciliary dyskinesia 19
- primary ciliary dyskinesia 2
- primary ciliary dyskinesia 20
- primary ciliary dyskinesia 21
- primary ciliary dyskinesia 22
- primary ciliary dyskinesia 23
- primary ciliary dyskinesia 24
- primary ciliary dyskinesia 25
- primary ciliary dyskinesia 26
- primary ciliary dyskinesia 27
- primary ciliary dyskinesia 28
- primary ciliary dyskinesia 29
- primary ciliary dyskinesia 3
- primary ciliary dyskinesia 30
- primary ciliary dyskinesia 32
- primary ciliary dyskinesia 33
- primary ciliary dyskinesia 34
- primary ciliary dyskinesia 35
- primary ciliary dyskinesia 4
- primary ciliary dyskinesia 5
- primary ciliary dyskinesia 6
- primary ciliary dyskinesia 7
- primary ciliary dyskinesia 8
- primary ciliary dyskinesia 9
- Stromme syndrome
- Young syndrome
