Endochondral ossification with skeletal dysplasias (Homo sapiens)

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Description

Taken from existing [Endochondral Ossification pathway](https://www.wikipathways.org/pathways/WP474.html)

Added diseases linked with a dotted arrow to GeneProduct nodes, dotted arrow indicates what diseases are caused by mutation in the respective genes.

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Quality Tags

Ontology Terms

 

Bibliography

  1. Randau TM, Schildberg FA, Alini M, Wimmer MD, Haddouti el-M, Gravius S, Ito K, Stoddart MJ; ''The effect of dexamethasone and triiodothyronine on terminal differentiation of primary bovine chondrocytes and chondrogenically differentiated mesenchymal stem cells.''; PLoS One, 2013 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 PubMed Europe PMC Scholia
  3. Mackie EJ, Ahmed YA, Tatarczuch L, Chen KS, Mirams M; ''Endochondral ossification: how cartilage is converted into bone in the developing skeleton.''; Int J Biochem Cell Biol, 2008 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
137050view22:28, 26 February 2025KhanspersModified description
128905view00:47, 24 February 2024EweitzStandardize case
128902view00:42, 24 February 2024EweitzSoften disease color
128901view00:40, 24 February 2024EweitzFix typo, standardize case
128900view00:39, 24 February 2024EweitzStandardize case
128899view00:27, 24 February 2024EweitzOntology Term : 'Eiken syndrome' added !
128898view00:27, 24 February 2024EweitzOntology Term : 'chondrodysplasia Blomstrand type' added !
128897view00:26, 24 February 2024EweitzOntology Term : 'Jansen's metaphyseal chondrodysplasia' added !
128896view00:26, 24 February 2024EweitzOntology Term : 'Pallister-Hall syndrome' added !
128895view00:25, 24 February 2024EweitzOntology Term : 'Greig cephalopolysyndactyly syndrome' added !
128894view00:25, 24 February 2024EweitzOntology Term : 'polydactyly' added !
128893view00:24, 24 February 2024EweitzOntology Term : 'metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome' added !
128892view00:19, 24 February 2024EweitzOntology Term : 'Pfeiffer syndrome' added !
128891view00:19, 24 February 2024EweitzOntology Term : 'osteoglophonic dysplasia' added !
128890view00:19, 24 February 2024EweitzOntology Term : 'Schmid metaphyseal chondrodysplasia' added !
128889view00:18, 24 February 2024EweitzOntology Term : 'spondylometaepiphyseal dysplasia, short limb-hand type' added !
128888view00:17, 24 February 2024EweitzOntology Term : 'spondyloepimetaphyseal dysplasia, Missouri type' added !
128887view00:16, 24 February 2024EweitzOntology Term : 'cleidocranial dysplasia' added !
128886view00:16, 24 February 2024EweitzOntology Term : 'metaphyseal dysplasia' added !
128885view00:15, 24 February 2024EweitzOntology Term : 'osteogenesis imperfecta' added !
128884view00:14, 24 February 2024EweitzOntology Term : 'brachydactyly type A1' added !
128883view00:13, 24 February 2024EweitzOntology Term : 'acrocapitofemoral dysplasia' added !
128882view00:13, 24 February 2024EweitzOntology Term : 'Muenke Syndrome' added !
128881view00:12, 24 February 2024EweitzOntology Term : 'Crouzon syndrome-acanthosis nigricans syndrome' added !
128880view00:11, 24 February 2024EweitzOntology Term : 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' added !
128879view00:11, 24 February 2024EweitzOntology Term : 'hypochondroplasia' added !
128878view00:11, 24 February 2024EweitzOntology Term : 'achondroplasia' added !
117708view12:27, 22 May 2021EweitzModified title
109123view05:57, 18 February 2020RleeConnected unconnected line.
109092view03:02, 17 February 2020RleeModified description
109091view02:58, 17 February 2020RleeModified title
109090view02:57, 17 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADAMTS1GeneProduct9510 (Entrez Gene)
ADAMTS4GeneProduct9507 (Entrez Gene)
ADAMTS5GeneProduct11096 (Entrez Gene)
AKP2GeneProduct249 (Entrez Gene)
AKTGeneProduct207 (Entrez Gene)
AdseverinGeneProduct85477 (Entrez Gene) PMID: 17097081
AggrecanGeneProduct176 (Entrez Gene)
BMP6GeneProduct654 (Entrez Gene)
BMP7GeneProduct655 (Entrez Gene)
BMPR1AGeneProduct657 (Entrez Gene)
Bapx1GeneProduct579 (Entrez Gene)
C4ST1GeneProduct50515 (Entrez Gene)
CAB39GeneProduct51719 (Entrez Gene)
CALM1GeneProduct801 (Entrez Gene)
CDKN1CGeneProduct1028 (Entrez Gene)
COL10A1GeneProduct1300 (Entrez Gene)
COL2A1GeneProduct1280 (Entrez Gene)
CarminerinGeneProduct1473 (Entrez Gene)
  • Taken as human homologue of mouse Cst10
  • PMID: 13679380
Cathepsin L2GeneProduct1515 (Entrez Gene) Taken as homologue to mouse Cathepsin L (Ctsl)
DDR2GeneProduct4921 (Entrez Gene)
FGF18GeneProduct8817 (Entrez Gene)
FGF2GeneProduct2247 (Entrez Gene)
FGFR1GeneProduct2260 (Entrez Gene)
FGFR3GeneProduct2261 (Entrez Gene)
FrzB-1GeneProduct2487 (Entrez Gene)
GH receptorGeneProduct2690 (Entrez Gene)
GLI3GeneProduct2737 (Entrez Gene)
Growth hormoneGeneProduct2688 (Entrez Gene)
HDAC4GeneProduct9759 (Entrez Gene)
HMGCS1GeneProduct3157 (Entrez Gene)
IGF1GeneProduct3479 (Entrez Gene)
IGF1RGeneProduct3480 (Entrez Gene)
IGF2GeneProduct3481 (Entrez Gene)
IHHGeneProduct3549 (Entrez Gene)
KIF3AGeneProduct11127 (Entrez Gene)
MEF2CGeneProduct4208 (Entrez Gene)
MGPGeneProduct4256 (Entrez Gene)
MMP13GeneProduct4322 (Entrez Gene)
MMP9GeneProduct4318 (Entrez Gene)
NPP1GeneProduct5167 (Entrez Gene)
OsteopontinGeneProduct6696 (Entrez Gene)
OxygenMetaboliteHMDB0001377 (HMDB)
PKAGeneProduct5566 (Entrez Gene)
PLATGeneProduct5327 (Entrez Gene)
PLAUGeneProduct5328 (Entrez Gene)
PTCH1GeneProduct5727 (Entrez Gene)
PTCHGeneProduct5727 (Entrez Gene)
PTHGeneProduct5741 (Entrez Gene)
PTHR1GeneProduct5745 (Entrez Gene)
PTHrPGeneProduct5744 (Entrez Gene)
RUNX2GeneProduct860 (Entrez Gene)
RUNX3GeneProduct864 (Entrez Gene)
SERPINH1GeneProduct871 (Entrez Gene)
SLC38A2GeneProduct54407 (Entrez Gene)
SOX5GeneProduct6660 (Entrez Gene)
SOX6GeneProduct55553 (Entrez Gene)
STAT1GeneProduct6772 (Entrez Gene)
STAT5GeneProduct6777 (Entrez Gene)
Sox9GeneProduct6662 (Entrez Gene)
TG737GeneProduct8100 (Entrez Gene)
TGFB1GeneProduct7040 (Entrez Gene)
TGFB2GeneProduct7042 (Entrez Gene)
TGFBIGeneProduct7040 (Entrez Gene)
THRAGeneProduct7067 (Entrez Gene)
TIMP3GeneProduct7078 (Entrez Gene)
TNAPGeneProduct445341 (Entrez Gene)
Thyroid hormoneMetaboliteCHEBI:60311 (ChEBI)
TriiodothyronineMetaboliteCHEBI:24864 (ChEBI)
VEGFAGeneProduct7422 (Entrez Gene)
cAMPMetaboliteHMDB0000058 (HMDB)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4808"
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