Endochondral Ossification with Skeletal Dysplasias (Homo sapiens)

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1-3integrinsVascular invastionChondrocyte deathRemoval of extracellular matrixand invasion by bone cellsChondrocyte proliferationBoneFull differentiationMineralisation?HypertrophyDyingRemoval of cartilage matrixProliferationCartilageBMPsWNT signalingcanonical / non-canonicalChondrocyte (pre)hypertrophyCathepsinsand CalpainsGsOsteoblasticdifferentiationRUNX2PLAUSLC38A2STAT1COL10A1NPP1SERPINH1Thyroid hormoneIGF1RMGPGLI3MMP13AggrecanHDAC4TGFB1VEGFATGFB2BMP7CarminerinTIMP3DDR2Cathepsin L2RUNX2RUNX3SOX5Bapx1AKP2FGF18THRASTAT5PTCH1OsteopontinKIF3APTHR1GH receptorSox9CALM1PTHPTHrPADAMTS1MMP9TGFBIAKTTG737ADAMTS4TNAPHMGCS1BMP6FGF2CAB39Growth hormoneADAMTS5OxygenIHHIGF1MEF2CPLATSOX6RUNX2TriiodothyronineAdseverinC4ST1PTCHcAMPFGFR3Thyroid hormoneFGFR1IGF2PKACDKN1CFrzB-1THRABMPR1ACOL2A1OMIM:100800AchondroplasiaOMIM:612247Crouzon Syndrome With Acanthosis NigricansOMIM:616482Achondroplasia, Severe, With Developmental Delay And Acanthosis NigricansOMIM:187601Thanatophoric Dysplasia, Type IIOMIM:187600Thanatophoric Dysplasia, Type IOMIM:602849Muenke SyndromeOMIM:146000HypochondroplasiaOMIM:610474Camptodactyly, Tall Stature, And Hearing Loss SyndromeOMIM:185900Chromosome 2q35 Duplication SyndromeOMIM:607778Acrocapitofemoral DysplasiaOMIM:112500Brachydactyly, Type A1OMIM:174700Polydactyly, Preaxial IvOMIM:146510Pallister-Hall SyndromeOMIM:175700Greig Cephalopolysyndactyly SyndromeOMIM:613848Osteogenesis Imperfecta, Type XOMIM:614732Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital AnomaliesOMIM:600002Eiken SyndromeOMIM:215045Chondrodysplasia, Blomstrand TypeOMIM:156400Metaphyseal Chondrodysplasia, Jansen TypeOMIM:119600Cleidocranial DysplasiaOMIM:245150Keutel SyndromeOMIM:156510Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without BrachydactylyOMIM:600430Chromosome 2q37 Deletion SyndromeOMIM:615465Hartsfield SyndromeOMIM:156500Metaphyseal Chondrodysplasia, Schmid TypeOMIM:101600Pfeiffer SyndromeOMIM:166250Osteoglophonic DysplasiaOMIM:271665Spondylometaepiphyseal Dysplasia, Short Limb-Hand TypeOMIM:613073Metaphyseal Anadysplasia 2OMIM:602111Spondyloepimetaphyseal Dysplasia, Missouri TypeOMIM:250400Metaphyseal Dysplasia, Spahr TypeOMIM:151210Platyspondylic Lethal Skeletal Dysplasia, Torrance TypeOMIM:156510Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without BrachydactylyOMIM:119600Cleidocranial DysplasiaOMIM:183900Spondyloepiphyseal Dysplasia CongenitaOMIM:609162Czech DysplasiaOMIM:184250Spondyloepimetaphyseal Dysplasia, Strudwick TypeOMIM:108300Stickler Syndrome, Type IOMIM:271700Spondyloperipheral DysplasiaOMIM:200610Achondrogenesis, Type IIOMIM:608805Avascular Necrosis Of Femoral Head, Primary, 1OMIM:156550Kniest Dysplasia


Description

Taken from existing 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.

Quality Tags

Ontology Terms

 

Bibliography

  1. 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
  2. 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
  3. 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

History

CompareRevisionActionTimeUserComment
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

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