IllnessAlveolar proteinoses, differential diagnosis

NGS +

Group of diseases

ORPHA:747 Autoimmune pulmonary alveolar proteinosis

ORPHA:264675 Hereditary pulmonary alveolar proteinosis

ORPHA:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:420259 Secondary pulmonary alveolar proteinosis

ORPHA:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

NKX2-1: Choreoathetosis, hypothyroidism, neonatal respiratory distress

• Alias. Pulmonary alveolar proteinosis
• Alias: Familial pulmonary fibrosis
• Alias: Hereditary pulmonary alveolar proteinosis
• Alias: Pulmonary alveolar proteinosis, Reunion island type
• Alias; Hereditary pulmonary alveolar proteinosis with hepatic involvement
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, AD 3 (TINF2)
• Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
• Allelic: Dyskeratosis congenita, AR 4 (TERT)
• Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
• Allelic: Dyskeratosis congenita, AR 6 (PARN)
• Allelic: Dyskeratosis congenita, XL (DKC1)
• Allelic: Dyskeratosis congenita, autosomal dominant 6 (ACD)
• Allelic: Dyskeratosis congenita, autosomal recessive 7 (ACD)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Farber lipogranulomatosis (ASAH1) for DD
• Allelic: Gaucher disease, perinatal lethal + types I, II, III, IIIC (GBA)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Revesz syndrome (TINF2)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Associated with dyskeratosis congenita + fibrosis (TINF2)
• Choreoathetosis, hypothyroidism, neonatal respiratory distress associ. pulmonary fibrosis (NKX2-1)
• Familial pulmonary fibrosis [panelapp] (ACD)
• Familial pulmonary fibrosis [panelapp] (CASR)
• Gaucher disease with associated pulmonary fibrosis (GBA)
• Hermansky-Pudlak syndrome 2 (AP3B1)
• Hyperparathyroidism, neonatal (CASR)
• Hypocalcemia, AD (CASR)
• Hypocalcemia, AD, with Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Interstitial lung + liver disease (MARS1)
• Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenital (ITGA3)
• Lysinuric protein intolerance (SLC7A7)
• Niemann-Pick disease, type A + B (SMPD1)
• Poikiloderma, hereditary fibrosing, tendon contractures, myopathy, pulmonary fibrosis (FAM111B)
• Pulmonary Fibrosis + Hermansky-Pudlak syndrome (HPS1, HPS4)
• Pulmonary alveolar microlithiasis (SLC34A2)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 (ZCCHC8)
• Rajab interstitial lung disease with brain calcifications 1 (FARSB)
• Rajab interstitial lung disease with brain calcifications 2 (FARSA)
• Severe early-onset pulmonary alveolar proteinosis due to MARS defic., Reunion island type [Orphan]
• Surfactant metabolism dysfunction, pulmonary, 1 (SFTPB)
• Surfactant metabolism dysfunction, pulmonary, 2 (SFTPC)
• Surfactant metabolism dysfunction, pulmonary, 3 (ABCA3)
• Surfactant metabolism dysfunction, pulmonary, 4 (CSF2RA)
• Surfactant metabolism dysfunction, pulmonary, 5 (CSF2RB)