ErkrankungLungenfibrose, idiopathische familiäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für idiopathische familiäre Lungenfibrose mit 11 bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP9483
Anzahl Gene
31
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,0 kb (Core-/Basis-Gene)
63,1 kb (Erweitertes Panel)
63,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AP3B1 | 3138 | AR | |
DKC1 | 1545 | XLR | |
HPS1 | 2103 | AR | |
HPS4 | 2127 | AR | |
PARN | 1920 | AD und/oder AR | |
RTEL1 | 3732 | AD und/oder AR | |
SFTPA2 | 747 | AD | |
SFTPB | 1146 | AR | |
SFTPC | 594 | AD | |
TERT | 3399 | AD und/oder AR und/oder SMu und/oder Sus | |
TINF2 | 1356 | AD | |
ZCCHC8 | 2124 | AD und/oder AR | |
ABCA3 | 5115 | AR | |
ASAH1 | 1188 | AR | |
BLOC1S3 | 609 | AR | |
BLOC1S6 | 519 | AR | |
CASR | 3237 | AD und/oder AR | |
CSF2RA | 1203 | XL/YL | |
CSF2RB | 2694 | AR | |
DTNBP1 | 813 | AR | |
FAM111B | 2115 | AD | |
FARSB | 1787 | AR | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
HPS3 | 3015 | AR | |
HPS5 | 3048 | AR | |
HPS6 | 2328 | AR | |
ITGA3 | 3156 | AR | |
NKX2-1 | 1206 | AD | |
SLC34A2 | 2070 | AR | |
SLC7A7 | 1536 | AR | |
SMPD1 | 1896 | 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)
- 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
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AR
- XL/YL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
J84.1
Bioinformatik und klinische Interpretation
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