|
Classification of Ehlers-Danlos syndromes |
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| Type |
Former nosology |
OMIM # |
Inheritance |
Gene and locus |
References |
|
|
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| 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 |
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