Table 1

Classification of Ehlers-Danlos syndromes

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
COL5A217q21
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]

aAD: Autosomal dominant

bAR: Autosomal resessive

cXL: X-linked

Germain Orphanet Journal of Rare Diseases 2007 2:32   doi:10.1186/1750-1172-2-32