MCID: JNS002
MIFTS: 54

Jansen's Metaphyseal Chondrodysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Jansen's Metaphyseal Chondrodysplasia

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8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 A metaphyseal dysplasia that has material basis in mutation in pth receptor which results in short-limbed dwarfism.

MalaCards: Jansen's Metaphyseal Chondrodysplasia, also known as jansen type metaphyseal chondrodysplasia, is related to achondroplasia and ollier disease, and has symptoms including enlarged diaphysis/diaphyses, hypoparathyroidy and clinodactyly of fifth finger. An important gene associated with Jansen's Metaphyseal Chondrodysplasia is PTH1R (parathyroid hormone 1 receptor), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and GPCRs, Class B Secretin-like. The compounds [d-trp12,tyr34]pth-(7-34) (bovine) and [ile5,trp23]pthrp-(5-36) have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are skeleton and limbs/digits/tail.

Description from OMIM:46 156400

Aliases & Classifications for Jansen's Metaphyseal Chondrodysplasia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
metaphyseal chondrodysplasia, jansen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jansen's metaphyseal chondrodysplasia 8
jansen type metaphyseal chondrodysplasia 42 20 22 60
metaphyseal chondrodysplasia, murk jansen type 9 46
murk jansen type metaphyseal chondrodysplasia 8 42
metaphyseal chondrodysplasia murk jansen type 42
metaphyseal chondrodysplasia, jansen type 48
jansen metaphyseal dysostosis 8
jansen disease 8


External Ids:

Disease Ontology8 DOID:0080020
OMIM46 156400
MESH via Orphanet35 C537564
ICD10 via Orphanet26 Q78.5
SNOMED-CT via Orphanet57 24629003
UMLS via Orphanet61 C0265295

Related Diseases for Jansen's Metaphyseal Chondrodysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Jansen's Metaphyseal Chondrodysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia10.0PTH1R
2ollier disease10.0PTHLH
3thyroid cancer10.0PTH
4pancreatic islet cell tumors10.0PTHLH
5hyperprolactinemia10.0PTHLH
6leydig cell tumor10.0PTHLH
7hypervitaminosis d10.0FGF23
8brachydactyly10.0PTH
9hyperostosis10.0FGF23
10osteoarthritis10.0PTHLH
11mccune albright syndrome10.0FGF23
12metabolic acidosis10.0PTH
13uremia10.0PTH
14fibrous dysplasia10.0FGF23
15metaphyseal dysplasia10.0PTHLH, PTH1R
16osteochondrodysplasia10.0PTH1R, PTHLH
17skeletal dysplasias10.0PTH1R, PTHLH
18osteoporosis, postmenopausal10.0PTHLH, PTH
19parathyroid adenoma10.0PTH, PTHLH
20primary hyperoxaluria10.0FGF23
21renal osteodystrophy10.0FGF23, PTH
22hyperthyroidism10.0PTH, FGF23
23x-linked hypophosphatemia10.0PTH, FGF23
24hyperphosphatemia10.0PTH, FGF23
25calcinosis10.0FGF23, PTH
26paraneoplastic syndromes10.0PTHLH, FGF23
27rickets10.0FGF23, PTH
28pseudohypoparathyroidism type 1b10.0PTHLH, PTH, PTH1R
29pseudohypoparathyroidism10.0PTH, PTH1R, PTHLH
30dwarfism10.0PTH, PTHLH, PTH1R
31nephrolithiasis10.0PTH, FGF23
32hypophosphatemia10.0FGF23, PTHLH, PTH
33hyperparathyroidism10.0FGF23, PTH, PTHLH
34secondary hyperparathyroidism of renal origin10.0PTH, PTHLH, FGF23
35osteosarcoma10.0PTH, PTH1R, PTHLH
36primary hyperparathyroidism10.0FGF23, PTH, PTHLH, PTH1R
37hypoparathyroidism10.0PTH1R, PTHLH, PTH, FGF23
38osteomalacia10.0PTH1R, FGF23, PTH, PTHLH
39secondary syphilis10.0PTHLH, PTH1R, FGF23, PTH
40hypercalcemia10.0PTH, FGF23, PTH1R, PTHLH
41osteoporosis10.0PTH, PTH1R, PTHLH, FGF23
42chronic kidney failure10.0PTH, PTHLH, PTH1R, FGF23

Graphical network of the top 20 diseases related to Jansen's Metaphyseal Chondrodysplasia:



Diseases related to jansen's metaphyseal chondrodysplasia

Clinical Features for Jansen's Metaphyseal Chondrodysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

156400

Clinical synopsis from OMIM:

156400

Symptoms:

48 (show all 20)
  • enlarged diaphysis/diaphyses
  • hypoparathyroidy
  • clinodactyly of fifth finger
  • short limbs/micromelia/brachymelia
  • phosphocalcic metabolism anomalies
  • hypercalcemia
  • proptosis/exophthalmos
  • hypoplastic mandibula/partial absence of the mandibula
  • short hand/brachydactyly
  • narrow rib cage/thorax
  • metaphyseal anomaly
  • hypertelorism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • prominent supraorbital ridge
  • restricted joint mobility/joint stiffness/ankylosis
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • osteosclerosis/osteopetrosis/bone condensation
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Jansen's Metaphyseal Chondrodysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Jansen's Metaphyseal Chondrodysplasia

Drug clinical trials:

Search ClinicalTrials for Jansen's Metaphyseal Chondrodysplasia

Search NIH Clinical Center for Jansen's Metaphyseal Chondrodysplasia

Search CenterWatch for Jansen's Metaphyseal Chondrodysplasia

Genetic Tests for Jansen's Metaphyseal Chondrodysplasia

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20GeneTests, 22GTR
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Genetic tests related to Jansen's Metaphyseal Chondrodysplasia:

id Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Jansen Type20 22 PTH1R

Anatomical Context for Jansen's Metaphyseal Chondrodysplasia

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32MalaCards
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MalaCards organs/tissues related to Jansen's Metaphyseal Chondrodysplasia:

32
Bone

Animal Models for Jansen's Metaphyseal Chondrodysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Jansen's Metaphyseal Chondrodysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1PTH, PTHLH, PTH1R, FGF23
2MP:00053717.8PTH, PTHLH, PTH1R, FGF23

Publications for Jansen's Metaphyseal Chondrodysplasia

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50PubMed
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Articles related to Jansen's Metaphyseal Chondrodysplasia:

(show all 11)
idTitleAuthorsYear
1
Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia. (22278430)
2012
2
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. (18854401)
2009
3
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. (15240651)
2004
4
The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia. (12198252)
2002
5
Jansen's metaphyseal chondrodysplasia. (10781242)
2000
6
The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia. (11021773)
2000
7
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. (10487664)
1999
8
Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. (9178745)
1997
9
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (8703170)
1996
10
Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation. (18406742)
1996
11
Murk Jansen's metaphyseal chondrodysplasia with long-term followup. (3562109)
1987

Genetic Variations for Jansen's Metaphyseal Chondrodysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Jansen's Metaphyseal Chondrodysplasia:

62
id Symbol AA change Variation ID SNP ID
1PTH1Rp.His223ArgVAR_003582
2PTH1Rp.Thr410ProVAR_003583
3PTH1Rp.Ile458ArgVAR_016064
4PTH1Rp.Thr410ArgVAR_038811

Expression for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

Search GEO for disease gene expression data for Jansen's Metaphyseal Chondrodysplasia.

Pathways for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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Pathways related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.5PTH, PTH1R
29.5PTH2R, PTH1R
38.9PTH, PTHLH, PTH1R
4
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
8.9PTH1R, PTHLH, PTH
58.7PTH, PTH1R, FGF23
6
Hide members
8.4PTH1R, PTH2R, PTHLH, PTH
7
Hide members
8.4PTH, PTHLH, PTH2R, PTH1R
8
Hide members
7.5FGF23, PTH1R, PTH2R, PTHLH, PTH

Compounds for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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28IUPHAR, 59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1[d-trp12,tyr34]pth-(7-34) (bovine)289.9PTH1R, PTH2R
2[ile5,trp23]pthrp-(5-36)289.9PTH1R, PTH2R
3[ile5,trp23]pthrp-(3-36) (human)289.9PTH1R, PTH2R
4tip39-(7-39) (human/bovine)289.9PTH1R, PTH2R
5[ile5,trp23]pthrp-(2-36) (human)289.9PTH1R, PTH2R
6[ile5,trp23]pthrp-(4-36) (human)289.9PTH2R, PTH1R
7tip39-(9-39) (human/bovine)289.9PTH2R, PTH1R
8pthrp-(1-36)289.9PTH1R, PTH2R
9[phe23]pth-(1-34) (human)289.9PTH1R, PTH2R
10[his5]pth-(1-34) (human)289.9PTH1R, PTH2R
11pthrp-(7-34) (human, rat, mouse)289.9PTH1R, PTH2R
12[d-trp12]pth-(7-34) (bovine)289.9PTH1R, PTH2R
13pthrp-(1-21)/pth-(22-34) (human)289.9PTH2R, PTH1R
14[125i][nle8,21,tyr34]pth-(1-34)-nh2 (rat)289.9PTH1R, PTH2R
15tip39289.9PTH1R, PTH2R
16pth-(1-34) (rat)289.9PTH1R, PTH2R
17parathyroid hormone (1-34) (human)599.9PTH1R, PTH2R
18[ile5,trp23]pthrp-(1-36) (human)289.9PTH2R, PTH1R
19[trp23,tyr36]pthrp-(1-36)-nh2 (human)289.9PTH1R, PTH2R
20[trp23]pthrp-(1-36) (human)289.9PTH1R, PTH2R
21[ile5,trp23,tyr36]pthrp-(1-36)-nh2 (human)289.9PTH1R, PTH2R
22pth-(1-34) (human)289.9PTH1R, PTH2R
23calcium carbonate449.7PTHLH, PTH
24pamidronate44 49 1111.7PTHLH, PTH
25alendronate44 49 1111.7PTH, PTHLH
26ccl444 2810.6PTHLH, PTH1R
27leupeptin449.6PTH, PTHLH
28hydroxyproline44 11 2411.6PTH, PTHLH
29dbc-amp449.5PTHLH, PTH1R
30ag 1478449.4PTH, PTHLH
31aprotinin44 1110.3PTHLH, PTH
32octreotide44 59 28 1112.2FGF23, PTHLH
33ibmx44 28 5911.2PTH, PTHLH, PTH1R
34ribonucleic acid449.2PTH, PTHLH, PTH1R
35forskolin44 49 1111.2PTH1R, PTHLH, PTH
36hydroxyapatite449.2FGF23, PTHLH
37pge2449.2PTH1R, PTHLH, PTH
38thymidine44 2410.2PTH, PTHLH, PTH1R
39adenylate449.1PTH, PTHLH, PTH1R
40cyclic amp44 2410.1PTH, PTHLH, PTH1R
4125-hydroxyvitamin d449.0PTH, PTHLH, FGF23
42nitric oxide44 11 2410.9PTH, PTHLH, PTH1R
43creatinine448.8FGF23, PTHLH, PTH
44dexamethasone44 49 28 1111.8PTH, PTHLH, PTH1R
45phosphorus448.5PTH, PTHLH, PTH1R, FGF23
461,25 dihydroxy vitamin d3448.5FGF23, PTH1R, PTHLH, PTH
47calcitriol44 59 11 2411.5FGF23, PTH1R, PTHLH, PTH
48vitamin d448.5FGF23, PTH1R, PTHLH, PTH
49arginine448.2FGF23, PTHLH, PTH
50calcium44 49 11 2410.9PTH, PTHLH, PTH2R, PTH1R, FGF23

GO Terms for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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16Gene Ontology
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Biological processes related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:0454539.5PTH, PTH1R
2cAMP metabolic processGO:0460589.5PTH, PTHLH
3osteoblast developmentGO:0020769.5PTH1R, PTHLH
4regulation of gene expressionGO:0104689.3PTH, PTHLH
5adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.1PTH, PTHLH, PTH1R
6positive regulation of cAMP biosynthetic processGO:0308199.0PTH, PTHLH
7skeletal system developmentGO:0015019.0PTH, PTHLH, PTH1R
8G-protein coupled receptor signaling pathwayGO:0071868.9PTH1R, PTH2R, PTH

Molecular functions related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1parathyroid hormone receptor activityGO:0049919.4PTH2R, PTH1R
2hormone activityGO:0051799.3PTH, PTHLH
3peptide hormone receptor bindingGO:0514289.0PTH, PTHLH

Products for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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  • Antibodies
  • Proteins
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Sources for Jansen's Metaphyseal Chondrodysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet