Klinische FragestellungLungenfibrose, idiopathische familiäre; Differentialdiagnose

NGS +

[Sanger]

Nicht-neoplastische Erkrankung, die durch die Bildung von Narbengewebe innerhalb der Lunge gekennzeichnet ist, ohne dass eine Ursache bekannt ist

• Alias: Pulmonal-Fibrose
• Alias: Pulmonary fibrosis
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Gaucher disease, perinatal lethal (GBA)
• Allelic: Hypocalcemia, AD (CASR)
• Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
• 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: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Dyskeratosis congenita, AD (NAF1)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Dyskeratosis congenita, XL (FAM111B)
• Farber lipogranulomatosis (ASAH1)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Hermansky-Pudlak syndrome 1 (HPS1)
• Hermansky-Pudlak syndrome 2 (AP3B1)
• Hermansky-Pudlak syndrome 3 (HPS3)
• Hermansky-Pudlak syndrome 4 (HPS4)
• Hermansky-Pudlak syndrome 5 (HPS5)
• Hermansky-Pudlak syndrome 6 (HPS6)
• Hermansky-Pudlak syndrome 7 (DTNBP1)
• Hermansky-Pudlak syndrome 8 (BLOC1S3)
• Hermansky-Pudlak syndrome 9 (BLOC1S6)
• Hyperparathyroidism, neonatal (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Interstitial lung disease 1 (SFTPA1)
• Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
• Lysinuric protein intolerance (SLC7A7)
• Lysinuric protein intolerance (SMPD1)
• 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)
• Pulmonary fibrosis, idiopathic (SFTPA2)
• Pulmonary fibrosis, idiopathic, susceptibility to (MUC5B)
• Pulmonary fibrosis-emphysema [panelapp] (NAF1)
• RIDDLE [radiosensitivity, immunodeficiency, dysmorphic face, learning difficult.] syndrome (RNF168)
• Rajab interstitial lung disease with brain calcifications 1 (FARSB)
• Rajab interstitial lung disease with brain calcifications 2 (FARSA)
• Revesz syndrome (TINF2)
• STING-associated vasculopathy, infantile-onset (STING1)
• 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)