English
Klinische FragestellungHyaline Fibromatose-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hyaline Fibromatose-Syndrom mit 8 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP1774
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 8 |
Untersuchte Sequenzlänge
1,5 kb (Core-/Core-canditate-Gene)
26,3 kb (Erweitertes Panel: inkl. additional genes)
26,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Locipanel
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_HP1774
Synonyme
- Alias: Inherited systemic hyalinosis
- Alias: Molluscum fibrosum
- Alias: Murray syndrome
- Alias: Puretic syndrome
- Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Kosaki overgrowth syndrome (PDGFRB)
- Allelic: Marfan syndrome (FBN1)
- Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
- Allelic: Osteogenesis imperfecta, type I, II, III, IV (COL1A1)
- Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
- Acromicric dysplasia (FBN1)
- Caffey disease (COL1A1)
- Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
- Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
- Farber lipogranulomatosis (ASAH1)
- Geleophysic dysplasia 2 (FBN1)
- Hyaline fibromatosis syndrome (ANTXR2)
- MASS syndrome (FBN1)
- Marfan lipodystrophy syndrome (FBN1)
- Mucolipidosis II + III alpha/beta (GNPTAB)
- Multicentric osteolysis, nodulosis + arthropathy (MMP2)
- Myofibromatosis, infantile, 1 (PDGFRB)
- Premature aging syndrome, Penttinen type (PDGFRB)
- Stiff skin syndrome (FBN1)
- Urbach-Wiethe disease (ECM1)
- Weill-Marchesani syndrome 2, AD (FBN1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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