Klinische FragestellungAlveolarproteinosen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Alveolarproteinosen mit 2 Leitlinien-kuratierten, 9 weiteren kuratierten bzw. insgesamt 28 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
AP5564
Anzahl Gene
24
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,6 kb (Core-/Core-canditate-Gene)
50,1 kb (Erweitertes Panel: inkl. additional genes)
50,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ABCA3 | 5115 | NM_001089.3 | AR | |
AP3B1 | 3138 | NM_001271769.2 | AR | |
ASAH1 | 1188 | NM_177924.5 | AR | |
CSF2RA | 1203 | NM_006140.6 | XL, YL | |
CSF2RB | 2694 | NM_000395.3 | AR | |
FARSB | 1787 | NM_005687.5 | AR | |
NKX2-1 | 1206 | NM_001079668.3 | AD | |
SFTPB | 1146 | NM_000542.5 | AR | |
SFTPC | 594 | NM_003018.4 | AD | |
SLC34A2 | 2070 | NM_001177998.2 | AR | |
TERT | 3399 | NM_198253.3 | AD, AR | |
DKC1 | 1545 | NM_001363.5 | XLR | |
FAM111B | 2115 | NM_001142703.2 | AD | |
GBA1 | 1611 | NM_001005741.3 | AR | |
HPS1 | 2103 | NM_000195.5 | AR | |
HPS4 | 2127 | NM_022081.6 | AR | |
ITGA3 | 3156 | NM_002204.4 | AR | |
MARS1 | 2703 | NM_004990.3 | AR | |
PARN | 1920 | NM_002582.4 | AD, AR | |
RTEL1 | 3732 | NM_032957.5 | AD, AR | |
SFTPA2 | 747 | NM_001098668.4 | AD | |
SLC7A7 | 1536 | NM_001126105.3 | AR | |
SMPD1 | 1896 | NM_000543.5 | AR | |
TINF2 | 1356 | NM_001099274.3 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
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
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
- YL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
J84.1
Bioinformatik und klinische Interpretation
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