Diseases of the respiratory system
Other respiratory diseases principally affecting the interstitium
10q22.3
Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 178500.1.1 | United Arab Emirates | Male | Yes | Yes | Recurrent respiratory infections; Atelec... Recurrent respiratory infections; Atelectasis  | NM_002458.2:c.16861G>T | Heterozygous, Homozygous | Autosomal, Recessive | Alsamri et al. 2020; Alsamri et al. 2021 | Several variants cou... |
| 178500.1.2 | United Arab Emirates | Male | Yes | Yes | Recurrent pneumonia; Atelectasis; Bronch... Recurrent pneumonia; Atelectasis; Bronchiectasis | NM_002458.2:c.16861G>T | Heterozygous, Homozygous | Autosomal, Recessive | Alsamri et al. 2020; Alsamri et al. 2021 | Sibling of 178500.1.... |
| 178500.2.1 | United Arab Emirates | Male | No | Yes | Recurrent respiratory infections; Dyspne... Recurrent respiratory infections; Dyspnea; Failure to thrive; Global developmental delay; Generalized hypotonia; Recurrent hypoglycemia; Elevated hepatic transaminase | NM_002458.2:c.14936T>C, NM_002458.2:c.16738G>A | Compound heterozygous, Heterozygous | Autosomal, Recessive | Alsamri et al. 2020; Alsamri et al. 2021 | |
| 178500.3 | United Arab Emirates | Unknown | Recurrent respiratory infections Recurrent respiratory infections | NM_002458.2:c.6599G>A | Heterozygous | Autosomal, Dominant | Alsamri et al. 2021 | Patient with small a... | ||
| 178500.4 | United Arab Emirates | Unknown | Abscess; Sinusitis; Abnormality of the... Abscess; Sinusitis; Abnormality of the respiratory system | NM_002458.2:c.6599G>A | Heterozygous | Autosomal, Dominant | Alsamri et al. 2021 | Patient with small a... | ||
| 178500.5 | United Arab Emirates | Unknown | Productive cough Productive cough | NM_001098668.4:c.542A>G | Heterozygous | Autosomal, Dominant | Alsamri et al. 2021 | |||
| 178500.6 | United Arab Emirates | Unknown | Abscess; Abnormality of the respiratory ... Abscess; Abnormality of the respiratory system; Chronic sinusitis | NM_002458.2:c.14683C>T | Heterozygous | Autosomal, Dominant | Alsamri et al. 2021 | |||
| 613990.1 | United Arab Emirates | Male | No | Yes | Recurrent pneumonia Recurrent pneumonia | NM_002458.2:c.10352C>T | Heterozygous | Autosomal, Dominant | Alsamri et al. 2020; Alsamri et al. 2021 | Authors mention that... |
Kanj et al. 2006 described the first instance of familial idopathic pulmonary fibrosis in 3 Lebanese siblings with similar clinical, radiological, and histological features.