[osteogenesis imperfecta & Ehlers-Danlos syndrome variant databases]

collagen helix

[introduction]

This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, KDELR2, LRP5, MBTPS2, MBTPS2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, TENT5A, and WNT1 genes.

The database also aims to record all published accounts of varaints resulting in the various types of Ehlers Danlos syndrome. Such varaints occcur in ADAMTS2, AEBP1, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PLOD3, and TNXB genes.

[the OI variant data]

BMP1
bone morphogenetic protein 1

CCDC134
coiled-coil domain containing 134

COL1A1
collagen type I alpha 1 chain

COL1A2
collagen type I alpha 1 chain

CREB3L1
cAMP responsive element binding protein 3-like 1

CRTAP
cartilage associated protein

FKBP10
FKBP prolyl isomerase 10

IFITM5
interferon induced transmembrane protein 5

KDELR2
KDEL endoplasmic reticulum protein retention receptor 2

LRP5
low density lipoprotein receptor-related protein 5

MBTPS2
membrane-bound transcription factor peptidase, site 2

MESD (formerly MESDC2)
membrane-bound transcription factor peptidase, site 2

P3H1 (formerly LEPRE1)
prolyl 3-hydroxylase 1

P4HB
prolyl 4-hydroxylase subunit beta

PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

PLS3
plastin 3

PPIB
peptidylprolyl isomerase B (cyclophilin B)

SEC24D
SEC24 homolog D, COPII coat complex component

SERPINF1
serpin family F member 1

SERPINH1
serpin family H member 1

SP7
Sp7 transcription factor

SPARC
secreted protein acidic and cysteine rich

TENT5A (formely FAM46A)
terminal nucleotidyltransferase 5A

TMEM38B
transmembrane protein 38B

WNT1
Wnt family member 1

[the EDS variant data]

ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2

AEBP1
AE binding protein 1

B3GALT6
beta-1,3-galactosyltransferase 6

B4GALT7
beta-1,4-galactosyltransferase 7

CHST14
carbohydrate sulfotransferase 14

COL1A1
collagen type I alpha 1 chain

COL1A2
collagen type I alpha 1 chain

COL3A1
collagen type III alpha 1

COL5A1
collagen type V alpha 1

COL5A2
collagen type V alpha 2

DSE
dermatan sulfate epimerase

FKBP14
FKBP prolyl isomerase 14

PLOD1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

PLOD3
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

TNXB
tenascin XB

[guides to numbering the variants]

Correctly numbering variants in accordance with nomenclature recommendations can be a difficult task. To help in this process, a nomenclature summary page is available and specific annotated guides for COL1A1, COL1A2 and COL3A1 have been prepared: last updated 23 May 2013

[This page last updated: 1 March 2023]