Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
6p21.1
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 244400.1.1 | Palestine | Female | Yes | Yes | Exercise intolerance; Productive cough... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Infertility  | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Castleman et al. 2009; Reish et al. 2010 | Index patient from a... |
| 244400.1.2 | Palestine | Male | Yes | Yes | Exercise intolerance; Productive coug... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Castleman et al. 2009; Reish et al. 2010 | Brother of 244400.1.... |
| 244400.1.3 | Palestine | Male | Yes | Yes | Exercise intolerance; Productive cou... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Castleman et al. 2009; Reish et al. 2010 | Brother of 244400.1.... |
| 244400.1.4 | Palestine | Female | Yes | Yes | Exercise intolerance; Productive co... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Castleman et al. 2009; Reish et al. 2010 | Niece of 244400.1.1 |
| 244400.2.1 | United Arab Emirates | Male | Yes | Yes | Exercise intolerance; Productive ... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 | Index patient from a... |
| 244400.2.2 | United Arab Emirates | Male | Yes | Yes | Exercise intolerance; Productive ... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 | Brother of 244400.2.... |
| 244400.2.3 | United Arab Emirates | Female | Yes | Yes | Exercise intolerance; Productive... Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 | Sister of 244400.2.1 |
| 612650.1 | Saudi Arabia | Female | Yes | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | ||
| 612650.2 | Saudi Arabia | Female | No | Yes | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |
| 612650.3 | Saudi Arabia | Male | Yes | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | ||
| 612650.4 | Saudi Arabia | Male | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 612650.5 | Saudi Arabia | Unknown | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 612650.6 | Saudi Arabia | Female | Yes | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | Similarly affected s... | |
| 612650.7 | Saudi Arabia | Male | Yes | Yes | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |
| 612650.8 | Saudi Arabia | Male | Ciliary dyskinesia Ciliary dyskinesia | NM_152732.4:c.804_806del | Homozygous | Autosomal, Recessive | Monies et al. 2019 |