Klinische FragestellungMyhre-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Myhre-Syndrom mit 1 "core"-Gen und zusammen genommen 8 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP4446
Anzahl Gene
6
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,7 kb (Core-/Core-canditate-Gene)
24,9 kb (Erweitertes Panel: inkl. additional genes)
24,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Synonyme
- Alias: Facial dysmorphism-intellectual disability-short stature-deafness syndrome
- Alias: Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
- Alias: Laryngotracheal stenosis, Arthropathy, Prognathism, Short stature (LAPS) Syndrome
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Glaucoma 3, primary congenital, D (LTBP2)
- Allelic: Hereditary hemorrhagic telangiectasia (SMAD4)
- Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Allelic: MASS syndrome (FBN1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Marfan syndrome (FBN1)
- Allelic: Microspherophakia and/or megalocornea, ectopia lentis, with/-out secondary glaucoma (LTBP2)
- Allelic: Pancreatic cancer, somatic (SMAD4)
- Allelic: Polyposis, juvenile intestinal (SMAD4)
- Allelic: Stiff skin syndrome (FBN1)
- Atelosteogenesis, type I (FLNB)
- Atelosteogenesis, type III (FLNB)
- Boomerang dysplasia (FLNB)
- Geleophysic dysplasia 1 (ADAMTSL2)
- Geleophysic dysplasia 2 (FBN1)
- Larsen syndrome (FLNB)
- Mulibrey nanism (TRIM37)
- Myhre syndrome (SMAD4)
- Spondylocarpotarsal synostosis syndrome (FLNB)
- Weill-Marchesani syndrome 1, AR (ADAMTS10)
- Weill-Marchesani syndrome 2, AD (FBN1)
- Weill-Marchesani syndrome 3, AR (LTBP2)
- Weill-Marchesani syndrome 4, AR (ADAMTS17)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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