Molekulargenetik

Bindegewebserkrankungen

Ehlers-Danlos Syndrom, autosomal dominant

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

Ehlers-Danlos Syndrom, autosomal rezessiv / X-chromosomal

ADAMTS2, B3GALT6, B4GALT7, CHST14, FKBP14, FLNA, PLOD1, SLC39A13

Hypochondrogenesie / Kniest Syndrom / Spondyloepimetaphysäre Dysplasie

COL2A1

Loeys-Dietz Syndrom

TGFBR1, TGFBR2

Marfan Syndrom

FBN1

Osteogenesis imperfecta

BMP1, COL1A1, COL1A2, COL5A2, CRTAP, FKBP10, IFITM5, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Stickler Syndrom

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

Thorakale Aortenerweiterung

ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2

Williams-Beuren Syndrom

ELN, MLPA 7q11.23

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