Klinische FragestellungLungenfibrose, idiopathische familiäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für idiopathische familiäre Lungenfibrose mit 5 Leitlinien-kuratierten Genen bzw. zusammen genommen 43 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP9483
Anzahl Gene
31
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,0 kb (Core-/Core-canditate-Gene)
63,1 kb (Erweitertes Panel: inkl. additional genes)
63,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
AP3B1 | 3138 | NM_001271769.2 | AR | |
DKC1 | 1545 | NM_001363.5 | XLR | |
HPS1 | 2103 | NM_000195.5 | AR | |
HPS4 | 2127 | NM_022081.6 | AR | |
PARN | 1920 | NM_002582.4 | AD | |
RTEL1 | 3732 | NM_032957.5 | AD | |
SFTPA2 | 747 | NM_001098668.4 | AD | |
SFTPB | 1146 | NM_000542.5 | AR | |
SFTPC | 594 | NM_003018.4 | AD | |
TERT | 3399 | NM_198253.3 | AD | |
TINF2 | 1356 | NM_001099274.3 | AD | |
ZCCHC8 | 2124 | NM_017612.5 | AD | |
ABCA3 | 5115 | NM_001089.3 | AR | |
ASAH1 | 1188 | NM_177924.5 | AR | |
BLOC1S3 | 609 | NM_212550.5 | AR | |
BLOC1S6 | 519 | NM_012388.4 | AR | |
CASR | 3237 | NM_000388.4 | AD | |
CSF2RA | 1203 | NM_006140.6 | PD/PR | |
CSF2RB | 2694 | NM_000395.3 | AR | |
DTNBP1 | 813 | NM_001271667.2 | AR | |
FAM111B | 2115 | NM_001142703.2 | AD | |
FARSB | 1787 | NM_005687.5 | AR | |
GBA1 | 1611 | NM_001005741.3 | AR | |
HPS3 | 3015 | NM_032383.5 | AR | |
HPS5 | 3048 | NM_007216.4 | AR | |
HPS6 | 2328 | NM_024747.6 | AR | |
ITGA3 | 3156 | NM_002204.4 | AR | |
NKX2-1 | 1206 | NM_001079668.3 | AD | |
SLC34A2 | 2070 | NM_001177998.2 | AR | |
SLC7A7 | 1536 | NM_001126105.3 | AR | |
SMPD1 | 1896 | NM_000543.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Nicht-neoplastische Erkrankung, die durch die Bildung von Narbengewebe innerhalb der Lunge gekennzeichnet ist, ohne dass eine Ursache bekannt ist
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- PD/PR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
J84.1
Bioinformatik und klinische Interpretation
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