Endochondral ossification with skeletal dysplasias (WP4808)

Homo sapiens

Taken from existing [[Pathway:WP474|Endochondral Ossification pathway]]. Added diseases linked with a dotted arrow to GeneProduct nodes, dotted arrow indicates what diseases are caused by mutation in the respective genes.
last edited


Ritchie Lee and Eric Weitz

Cited In

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Homo sapiens


Skeletal Dysplasia


Cell Type Ontology: osteoclast obsolete osteochondroclast chondrocyte

Pathway Ontology: regulatory pathway


Label Type Compact Identifier Comment
Oxygen Metabolite hmdb:HMDB0001377
Triiodothyronine Metabolite chebi:24864
Thyroid hormone Metabolite chebi:60311
Thyroid hormone Metabolite chebi:60311
cAMP Metabolite hmdb:HMDB0000058
AKP2 GeneProduct ncbigene:249
Osteopontin GeneProduct ncbigene:6696
FGFR3 GeneProduct ncbigene:2261
MMP13 GeneProduct ncbigene:4322
Aggrecan GeneProduct ncbigene:176
BMPR1A GeneProduct ncbigene:657
IHH GeneProduct ncbigene:3549
FGFR1 GeneProduct ncbigene:2260
IGF2 GeneProduct ncbigene:3481
BMP6 GeneProduct ncbigene:654
IGF1 GeneProduct ncbigene:3479
SLC38A2 GeneProduct ncbigene:54407
TGFBI GeneProduct ncbigene:7040
CAB39 GeneProduct ncbigene:51719
MEF2C GeneProduct ncbigene:4208
COL2A1 GeneProduct ncbigene:1280
ADAMTS5 GeneProduct ncbigene:11096
RUNX3 GeneProduct ncbigene:864
PTH GeneProduct ncbigene:5741
FGF18 GeneProduct ncbigene:8817
CALM1 GeneProduct ncbigene:801
Adseverin GeneProduct ncbigene:85477 PMID: 17097081
RUNX2 GeneProduct ncbigene:860
FGF2 GeneProduct ncbigene:2247
SOX6 GeneProduct ncbigene:55553
PTCH GeneProduct ncbigene:5727
NPP1 GeneProduct ncbigene:5167
PKA GeneProduct ncbigene:5566
KIF3A GeneProduct ncbigene:11127
PTCH1 GeneProduct ncbigene:5727
TNAP GeneProduct ncbigene:445341
RUNX2 GeneProduct ncbigene:860
C4ST1 GeneProduct ncbigene:50515
Cathepsin L2 GeneProduct ncbigene:1515 Taken as homologue to mouse Cathepsin L (Ctsl)
TGFB2 GeneProduct ncbigene:7042
AKT GeneProduct ncbigene:207
Growth hormone GeneProduct ncbigene:2688
GLI3 GeneProduct ncbigene:2737
HMGCS1 GeneProduct ncbigene:3157
VEGFA GeneProduct ncbigene:7422
MMP9 GeneProduct ncbigene:4318
SERPINH1 GeneProduct ncbigene:871
BMP7 GeneProduct ncbigene:655
CDKN1C GeneProduct ncbigene:1028
Sox9 GeneProduct ncbigene:6662
THRA GeneProduct ncbigene:7067
RUNX2 GeneProduct ncbigene:860
STAT1 GeneProduct ncbigene:6772
ADAMTS1 GeneProduct ncbigene:9510
THRA GeneProduct ncbigene:7067
GH receptor GeneProduct ncbigene:2690
PLAU GeneProduct ncbigene:5328
MGP GeneProduct ncbigene:4256
STAT5 GeneProduct ncbigene:6777
COL10A1 GeneProduct ncbigene:1300
ADAMTS4 GeneProduct ncbigene:9507
TGFB1 GeneProduct ncbigene:7040
IGF1R GeneProduct ncbigene:3480
TG737 GeneProduct ncbigene:8100
DDR2 GeneProduct ncbigene:4921
Bapx1 GeneProduct ncbigene:579
Carminerin GeneProduct ncbigene:1473 Taken as human homologue of mouse Cst10
PMID: 13679380
FrzB-1 GeneProduct ncbigene:2487
PLAT GeneProduct ncbigene:5327
HDAC4 GeneProduct ncbigene:9759
PTHrP GeneProduct ncbigene:5744
PTHR1 GeneProduct ncbigene:5745
SOX5 GeneProduct ncbigene:6660
TIMP3 GeneProduct ncbigene:7078


  1. Mackie EJ, Ahmed YA, Tatarczuch L, Chen K-S, Mirams M. Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Int J Biochem Cell Biol. 2008;40(1):46–62. PubMed Europe PMC Scholia
  2. Belluoccio D, Bernardo BC, Rowley L, Bateman JF. A microarray approach for comparative expression profiling of the discrete maturation zones of mouse growth plate cartilage. Biochim Biophys Acta. 2008 May;1779(5):330–40. PubMed Europe PMC Scholia
  3. Randau TM, Schildberg FA, Alini M, Wimmer MD, Haddouti E-M, Gravius S, et al. The effect of dexamethasone and triiodothyronine on terminal differentiation of primary bovine chondrocytes and chondrogenically differentiated mesenchymal stem cells. PLoS One. 2013 Aug 16;8(8):e72973. PubMed Europe PMC Scholia