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ErkrankungChondrodysplasia punctata, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Chondrodysplasia punctata mit 8 bzw. 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP7654
Anzahl Gene
10 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,3 kb (Core-/Basis-Gene)
14,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AGPS1977AR
ARSL1780XLR
EBP693XL
GNPAT2043AR
MGP312AR
PEX7972AR
VKORC1492AD
DHCR71428AR
NSDHL1122XL
VPS35L3462AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: Arylsulfatase E Deficiency (CDPX1)
  • Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
  • Alias: Chondrodysplasia punctata, CDP
  • Alias: Chondrodysplasie p.
  • Allelic: Cataracts, spastic paraparesis + speech delay (FAR1)
  • Allelic: Pelger-Huet anomaly (LBR)
  • Allelic: Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
  • Allelic: Peroxisome biogenesis disorder 2B (PEX5)
  • Allelic: Reynolds syndrome (LBR)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • CK syndrome: Mental retardation, XL, thin habitus, cortical malformation (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome (NSDHL)
  • Conradi-Hünermann syndrome, Happle syndrome (EBP)
  • Desmosterolosis (DHCR25)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Greenberg skeletal dysplasia (LBR)
  • Keutel syndrome: Pulm. stenoses, brachytelephalangy, deafness, abnormal cartilage ossification (MGP)
  • Lathosterolosis (SC5D)
  • Lipodystrophy, congenital generalized, type 1 (AGPS)
  • Male EBP disorder with neurologic defects [MEND] syndrome (EBP)
  • Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
  • Pelger-Huet anomaly with mild skeletal anomalies (LBR)
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
  • Pulmonic stenoses, brachytelephalangy, deaf, abnormal cartilage ossification/calcification (MGP)
  • Refsum peroxisomal disease 9B (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
  • Rhizomelic chondrodysplasia punctata, type 4 (FAR1)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Ritscher-Schinzel syndrome 3 (VPS35L)
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
  • XLD chondrodysplasia punctata as phenocopy of warfarin embryopathy (VKORC1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q77.3

Bioinformatik und klinische Interpretation

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