Klinische FragestellungHeterotaxie - Situs inversus, Differentialdiagnose

NGS +

illness_ClinicalComment_HP9947

• Alias: Situs inversus, Isomerismus
• Allelic: Atrioventricular septal defect, susceptibility to, 2 (CRELD1)
• Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
• Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
• Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: VACTERL association, XL (ZIC3)
• Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
• Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
• Ciliary dyskinesia, primary, 10 (DNAAF2)
• Ciliary dyskinesia, primary, 13 (DNAAF1)
• Ciliary dyskinesia, primary, 14 (CCDC39)
• Ciliary dyskinesia, primary, 15 (CCDC40)
• Ciliary dyskinesia, primary, 16 (DNAL1)
• Ciliary dyskinesia, primary, 17 (CCDC103)
• Ciliary dyskinesia, primary, 18 (DNAAF5)
• Ciliary dyskinesia, primary, 19 (DNAAF11)
• Ciliary dyskinesia, primary, 2 (DNAAF3)
• Ciliary dyskinesia, primary, 20 (ODAD1 syn. CCDC114)
• Ciliary dyskinesia, primary, 22 (ZMYND10)
• Ciliary dyskinesia, primary, 23 (ODAD2 syn. ARMC4)
• Ciliary dyskinesia, primary, 25 (DNAAF49
• Ciliary dyskinesia, primary, 26 (CFAP298 syn. C21orf59)
• Ciliary dyskinesia, primary, 28 (SPAG1)
• Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
• Ciliary dyskinesia, primary, 35 (TTC25)
• Ciliary dyskinesia, primary, 36, XL (DNAAF6)
• Ciliary dyskinesia, primary, 37 (DNAH1)
• Ciliary dyskinesia, primary, 38 (CFAP300 syn. C11orf70)
• Ciliary dyskinesia, primary, 39 (LRRC56)
• Ciliary dyskinesia, primary, 40 (DNAH9)
• Ciliary dyskinesia, primary, 43 (FOXJ1)
• Ciliary dyskinesia, primary, 6 (NME8)
• Ciliary dyskinesia, primary, 7, with/-out situs inversus (DNAH11)
• Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
• Congenital heart defects, multiple types, 6 (GDF1)
• Conotruncal heart malformations, variable (NKX2-5)
• Heterotaxy, visceral, 1, XL (ZIC3)
• Heterotaxy, visceral, 2, AD (CFC1)
• Heterotaxy, visceral, 4, AD (ACVR2B)
• Heterotaxy, visceral, 5 (NODAL)
• Heterotaxy, visceral, 6, AR (CFAP53)
• Heterotaxy, visceral, 7, AR (MMP21)
• Heterotaxy, visceral, 8, AR (PKD1L1)
• Heterotaxy, visceral, 9, AR, with male infertility (MNS1)
• Heterotaxy, visceral; MONDO:0018677 (CFAP52)
• Joubert syndrome 10 (OFD1)
• Orofaciodigital syndrome I (OFD1)
• Right atrial isomerism [Ivemark] (GDF1)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Situs inversus [MONDO:0010029] (CFAP45)
• Tetralogy of Fallot (NKX2-5)
• Ventricular septal defect 3 (NKX2-5)