Lungs and breathing

The lungs are the largest part of the respiratory system, which delivers oxygen to the body and removes carbon dioxide waste. Some lung conditions are caused by abnormal gene function.

• AAT see alpha-1 antitrypsin deficiency
• ACD see alveolar capillary dysplasia with misalignment of pulmonary veins
• alpha-1 antitrypsin deficiency
• alveolar capillary dysplasia with misalignment of pulmonary veins
• Arylsulfatase B deficiency see mucopolysaccharidosis type VI
• autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
• autosomal recessive distal spinal muscular atrophy 1 see spinal muscular atrophy with respiratory distress type 1
• Ayerza Syndrome see pulmonary arterial hypertension
• Bartholin-Patau syndrome see trisomy 13
• beta-glucuronidase deficiency see mucopolysaccharidosis type VII
• CCHS see congenital central hypoventilation syndrome
• CF see cystic fibrosis
• Classical Niemann-Pick Disease see Niemann-Pick disease
• Complete trisomy 13 syndrome see trisomy 13
• complete trisomy 18 syndrome see trisomy 18
• congenital alveolar capillary dysplasia see alveolar capillary dysplasia with misalignment of pulmonary veins
• congenital central hypoventilation syndrome
• congenital diaphragmatic hernia
• cryptogenic fibrosing alveolitis see idiopathic pulmonary fibrosis
• cystic fibrosis
• DAF syndrome see Niemann-Pick disease
• 22q11.2 deletion syndrome see Opitz G/BBB syndrome
• DHMN6 see spinal muscular atrophy with respiratory distress type 1
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• diaphragmatic spinal muscular atrophy see spinal muscular atrophy with respiratory distress type 1
• distal hereditary motor neuronopathy type VI see spinal muscular atrophy with respiratory distress type 1
• distal spinal muscular atrophy type 1 see spinal muscular atrophy with respiratory distress type 1
• DSMA1 see spinal muscular atrophy with respiratory distress type 1
• dyskeratosis congenita
• Edwards syndrome see trisomy 18
• familial persistent pulmonary hypertension of the newborn see alveolar capillary dysplasia with misalignment of pulmonary veins
• familial primary pulmonary hypertension see pulmonary arterial hypertension
• fibrocystic disease of pancreas see cystic fibrosis
• FPPH see pulmonary arterial hypertension
• Fryns syndrome
• geleophysic dysplasia
• genetic emphysema see alpha-1 antitrypsin deficiency
• GUSB deficiency see mucopolysaccharidosis type VII
• Haddad syndrome see congenital central hypoventilation syndrome
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• HMN6 see spinal muscular atrophy with respiratory distress type 1
• HMNVI see spinal muscular atrophy with respiratory distress type 1
• Hoyeraal-Hreidarsson syndrome see dyskeratosis congenita
• Hunter Syndrome see mucopolysaccharidosis type II
• Hurler-Scheie syndrome see mucopolysaccharidosis type I
• Hurler syndrome see mucopolysaccharidosis type I
• hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
• hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
• I-Cell Disease see mucolipidosis II alpha/beta
• I2S deficiency see mucopolysaccharidosis type II
• idiopathic pulmonary fibrosis
• Idiopathic pulmonary hypertension see pulmonary arterial hypertension
• IDUA deficiency see mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
• immotile cilia syndrome see primary ciliary dyskinesia
• Inclusion Cell Disease see mucolipidosis II alpha/beta
• inherited emphysema see alpha-1 antitrypsin deficiency
• interstitial lung disease due to surfactant deficiency see surfactant dysfunction
• IPF see idiopathic pulmonary fibrosis
• LAM see lymphangioleiomyomatosis
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• lymphangioleiomyomatosis
• lymphangiomyomatosis see lymphangioleiomyomatosis
• Maroteaux-Lamy Syndrome see mucopolysaccharidosis type VI
• misalignment of the pulmonary vessels see alveolar capillary dysplasia with misalignment of pulmonary veins
• MLII see mucolipidosis II alpha/beta
• MPS I see mucopolysaccharidosis type I
• MPS II see mucopolysaccharidosis type II
• MPS VI see mucopolysaccharidosis type VI
• MPS VII see mucopolysaccharidosis type VII
• MPS6 see mucopolysaccharidosis type VI
• MPS7 see mucopolysaccharidosis type VII
• mucolipidosis II alpha/beta
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• mucopolysaccharidosis type VI
• mucopolysaccharidosis type VII
• mucoviscidosis see cystic fibrosis
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• Niemann-Pick disease
• NPD see Niemann-Pick disease
• Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
• Ondine Syndrome see congenital central hypoventilation syndrome
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• Opitz G/BBB syndrome
• PAH see pulmonary arterial hypertension
• Patau syndrome see trisomy 13
• PCD see primary ciliary dyskinesia
• PHA1 see pseudohypoaldosteronism type 1
• PHS see Pitt-Hopkins syndrome
• Pitt-Hopkins syndrome
• pneumothorax see primary spontaneous pneumothorax
• Polydystrophic Dwarfism see mucopolysaccharidosis type VI
• PPH see pulmonary arterial hypertension
• primary ciliary dyskinesia
• primary pulmonary hypertension see pulmonary arterial hypertension
• primary spontaneous pneumothorax
• pseudohypoaldosteronism type 1
• PSP see primary spontaneous pneumothorax
• PTHS see Pitt-Hopkins syndrome
• pulmonary arterial hypertension
• pulmonary surfactant metabolism dysfunction see surfactant dysfunction
• Scheie syndrome see mucopolysaccharidosis type I
• severe infantile axonal neuropathy with respiratory failure see spinal muscular atrophy with respiratory distress type 1
• SIANRF see spinal muscular atrophy with respiratory distress type 1
• Sly Syndrome see mucopolysaccharidosis type VII
• SMARD1 see spinal muscular atrophy with respiratory distress type 1
• Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• Sphingomyelin lipidosis see Niemann-Pick disease
• Sphingomyelinase deficiency see Niemann-Pick disease
• spinal muscular atrophy with respiratory distress type 1
• spontaneous pneumothorax see primary spontaneous pneumothorax
• sporadic primary pulmonary hypertension see pulmonary arterial hypertension
• surfactant dysfunction
• tetra-amelia syndrome
• trisomy 13
• trisomy 18
• usual interstitial pneumonia see idiopathic pulmonary fibrosis
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
• Zinsser-Cole-Engman syndrome see dyskeratosis congenita