Endochondral ossification with skeletal dysplasias (Homo sapiens)

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1-3DyingChondrocyte deathBMPsChondrocyte (pre)hypertrophyOsteoblasticdifferentiationRemoval of cartilage matrixVascular invasionCathepsinsand calpainsProliferationChondrocyte proliferationCartilage?HypertrophyBoneWNT signalingcanonical / non-canonicalRemoval of extracellular matrixand invasion by bone cellsIntegrinsFull differentiationMineralizationGsTriiodothyronineHDAC4COL10A1C4ST1TGFB1KIF3AGH receptorAKTBMP6RUNX2FGF18Thyroid hormoneCathepsin L2PTHTHRASTAT5GLI3Thyroid hormoneCOL2A1FGF2BMP7THRAMMP9MEF2CPKAADAMTS1SERPINH1FrzB-1OsteopontinTNAPBapx1TGFB2OxygenSLC38A2STAT1IGF1RTIMP3RUNX2MGPPTCHSOX5FGFR3RUNX2PTCH1AdseverinADAMTS5HMGCS1cAMPGrowth hormoneTGFBICALM1IHHPTHR1RUNX3PLATTG737Sox9FGFR1BMPR1AAggrecanCAB39IGF2VEGFAPTHrPMMP13IGF1CarminerinPLAUSOX6CDKN1CADAMTS4NPP1AKP2DDR2OMIM: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.

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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
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

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