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ErkrankungAlveolarproteinosen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Alveolarproteinosen mit 12 bzw. 24 kuratierten Genen je nach klinischer Verdachtsdiagnose

ID
AP5564
Anzahl Gene
24 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,6 kb (Core-/Basis-Gene)
50,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCA35115AR
AP3B13138AR
ASAH11188AR
CSF2RA1203XL/YL
CSF2RB2694AR
FARSB1787AR
NKX2-11206AD
SFTPB1146AR
SFTPC594AD
SLC34A22070AR
TERT3399AD und/oder AR und/oder SMu und/oder Sus
DKC11545XLR
FAM111B2115AD
GBA1611AD und/oder AR und/oder Sus
HPS12103AR
HPS42127AR
ITGA33156AR
MARS12703AD und/oder AR
PARN1920AD und/oder AR
RTEL13732AD und/oder AR
SFTPA2747AD
SLC7A71536AR
SMPD11896AR
TINF21356AD

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: 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)
  • Gaucher disease with associated pulmonary fibrosis (GBA)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • 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
  • 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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