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Table 1 Classification of Ehlers-Danlos syndromes

From: Ehlers-Danlos syndrome type IV

Type Former nosology OMIM # Inheritance Gene and locus References
Classical type Type I 130000 ADa COL5A1, 9q34
COL5A2, 17q21
Other?
[59, 60]
Classical type Type II 130010 AD COL5A1, 9q34
COL5A2 17q21
Other?
[59, 60]
Ehlers-Danlos like syndrome with Tenascin X deficiency   606408 ARb TNXB, 6p21.3 [61] [62]
Hypermobility type Type III 130020 AD TNXB, 6p21.3
Other?
[63]
Vascular type Type VIA
Type VIB
225400 AR PLOD, 1p36
?
[64]
Arthrochalasia type Types VIIA and VIIB 130060 AD COL1A1, 17q21
COL1A2, 7q22
[65] [66]
Dermatosparaxis type Type VIIC 225410 AR ADAMTS2, 5q23 [67]
Progeroid type   130070 AD XGPT1, 5q35 [68]
Periodontitis type Type VIII 130080 AD ?, 12p13 [69]
Ehlers-Danlos variant with periventricular heterotopia   300537 XLc FLNA, Xq28 [70]
  1. aAD: Autosomal dominant
  2. bAR: Autosomal resessive
  3. cXL: X-linked