MCID: JNS002
MIFTS: 40

Jansen's Metaphyseal Chondrodysplasia malady

Bone, Fetal categories

Summaries for Jansen's Metaphyseal Chondrodysplasia

Sources:
8Disease Ontology, 47OMIM, 33MalaCards
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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 chondrodysplasia and achondroplasia, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, frontal bossing/prominent forehead and hypertelorism. 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. Related mouse phenotypes are skeleton and limbs/digits/tail.

Description from OMIM:47 156400

Aliases & Classifications for Jansen's Metaphyseal Chondrodysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 9diseasecard, 47OMIM, 20GeneTests, 22GTR, 61UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 61
metaphyseal chondrodysplasia, murk jansen type 9 47
murk jansen type metaphyseal chondrodysplasia 8 43
metaphyseal chondrodysplasia murk jansen type 43
metaphyseal chondrodysplasia, jansen type 49
jansen metaphyseal dysostosis 8
jansen disease 8


External Ids:

Disease Ontology8 DOID:0080020
OMIM47 156400
MESH via Orphanet36 C537564
ICD10 via Orphanet26 Q78.5
SNOMED-CT via Orphanet58 24629003
UMLS via Orphanet62 C0265295

Related Diseases for Jansen's Metaphyseal Chondrodysplasia

Sources:
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 43)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia10.6
2achondroplasia10.0PTH1R
3ollier disease10.0PTHLH
4thyroid cancer10.0PTH
5pancreatic islet cell tumors10.0PTHLH
6hyperprolactinemia10.0PTHLH
7leydig cell tumor10.0PTHLH
8hypervitaminosis d10.0FGF23
9brachydactyly10.0PTH
10hyperostosis10.0FGF23
11osteoarthritis10.0PTHLH
12mccune albright syndrome10.0FGF23
13metabolic acidosis10.0PTH
14uremia10.0PTH
15fibrous dysplasia10.0FGF23
16metaphyseal dysplasia10.0PTHLH, PTH1R
17osteochondrodysplasia10.0PTH1R, PTHLH
18skeletal dysplasias10.0PTH1R, PTHLH
19osteoporosis, postmenopausal10.0PTHLH, PTH
20parathyroid adenoma10.0PTH, PTHLH
21primary hyperoxaluria10.0FGF23
22renal osteodystrophy10.0FGF23, PTH
23hyperthyroidism10.0PTH, FGF23
24x-linked hypophosphatemia10.0PTH, FGF23
25hyperphosphatemia10.0PTH, FGF23
26calcinosis10.0FGF23, PTH
27paraneoplastic syndromes10.0PTHLH, FGF23
28rickets10.0FGF23, PTH
29pseudohypoparathyroidism type 1b10.0PTHLH, PTH, PTH1R
30pseudohypoparathyroidism10.0PTH, PTH1R, PTHLH
31dwarfism10.0PTH, PTHLH, PTH1R
32nephrolithiasis10.0PTH, FGF23
33hypophosphatemia10.0FGF23, PTHLH, PTH
34hyperparathyroidism10.0FGF23, PTH, PTHLH
35secondary hyperparathyroidism of renal origin10.0PTH, PTHLH, FGF23
36osteosarcoma10.0PTH, PTH1R, PTHLH
37primary hyperparathyroidism10.0FGF23, PTH, PTHLH, PTH1R
38hypoparathyroidism10.0PTH1R, PTHLH, PTH, FGF23
39osteomalacia10.0PTH1R, FGF23, PTH, PTHLH
40secondary syphilis10.0PTHLH, PTH1R, FGF23, PTH
41hypercalcemia10.0PTH, FGF23, PTH1R, PTHLH
42osteoporosis10.0PTH, PTH1R, PTHLH, FGF23
43chronic 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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

156400

Clinical synopsis from OMIM:

156400

Symptoms:

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

Drugs & Therapeutics for Jansen's Metaphyseal Chondrodysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Jansen's Metaphyseal Chondrodysplasia

Drug clinical trials:

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Search NIH Clinical Center for Jansen's Metaphyseal Chondrodysplasia

Search CenterWatch for Jansen's Metaphyseal Chondrodysplasia

Genetic Tests for Jansen's Metaphyseal Chondrodysplasia

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Jansen's Metaphyseal Chondrodysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Jansen's Metaphyseal Chondrodysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1PTH, PTHLH, PTH1R, FGF23
2MP:00053717.8PTH, PTHLH, PTH1R, FGF23

Publications for Jansen's Metaphyseal Chondrodysplasia

Sources:
51PubMed
See all sources

Articles related to Jansen's Metaphyseal Chondrodysplasia:

idTitleAuthorsYear
1
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. (18854401)
2009
2
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
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
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

Genetic Variations for Jansen's Metaphyseal Chondrodysplasia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Jansen's Metaphyseal Chondrodysplasia:

63
id Symbol AA change Variation SNP ID
1PTH1Rp.His223ArgVAR_003582
2PTH1Rp.Thr410ProVAR_003583
3PTH1Rp.Ile458ArgVAR_016064
4PTH1Rp.Thr410ArgVAR_038811

Expression for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG
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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
58.7PTH1R, PTH, FGF23
6
Hide members
8.4PTH1R, PTH2R, PTHLH, PTH
7
Hide members
8.4PTHLH, PTH1R, PTH2R, PTH
8
Hide members
7.5FGF23, PTH1R, PTH2R, PTHLH, PTH

Compounds for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

Sources:
29IUPHAR, 60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

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)299.9PTH1R, PTH2R
2[ile5,trp23]pthrp-(5-36)299.9PTH1R, PTH2R
3[ile5,trp23]pthrp-(3-36) (human)299.9PTH1R, PTH2R
4tip39-(7-39) (human/bovine)299.9PTH1R, PTH2R
5[ile5,trp23]pthrp-(2-36) (human)299.9PTH1R, PTH2R
6[ile5,trp23]pthrp-(4-36) (human)299.9PTH2R, PTH1R
7tip39-(9-39) (human/bovine)299.9PTH2R, PTH1R
8pthrp-(1-36)299.9PTH1R, PTH2R
9[phe23]pth-(1-34) (human)299.9PTH1R, PTH2R
10[his5]pth-(1-34) (human)299.9PTH1R, PTH2R
11pthrp-(7-34) (human, rat, mouse)299.9PTH1R, PTH2R
12[d-trp12]pth-(7-34) (bovine)299.9PTH1R, PTH2R
13pthrp-(1-21)/pth-(22-34) (human)299.9PTH2R, PTH1R
14[125i][nle8,21,tyr34]pth-(1-34)-nh2 (rat)299.9PTH1R, PTH2R
15tip39299.9PTH1R, PTH2R
16pth-(1-34) (rat)299.9PTH1R, PTH2R
17parathyroid hormone (1-34) (human)609.9PTH1R, PTH2R
18[ile5,trp23]pthrp-(1-36) (human)299.9PTH2R, PTH1R
19[trp23,tyr36]pthrp-(1-36)-nh2 (human)299.9PTH1R, PTH2R
20[trp23]pthrp-(1-36) (human)299.9PTH1R, PTH2R
21[ile5,trp23,tyr36]pthrp-(1-36)-nh2 (human)299.9PTH1R, PTH2R
22pth-(1-34) (human)299.9PTH1R, PTH2R
23calcium carbonate459.7PTHLH, PTH
24pamidronate45 50 1111.7PTHLH, PTH
25alendronate45 50 1111.7PTH, PTHLH
26ccl445 2910.6PTHLH, PTH1R
27leupeptin459.6PTH, PTHLH
28hydroxyproline45 11 2411.6PTH, PTHLH
29dbc-amp459.5PTHLH, PTH1R
30ag 1478459.4PTH, PTHLH
31aprotinin45 1110.3PTHLH, PTH
32octreotide45 60 29 1112.2FGF23, PTHLH
33ibmx45 29 6011.2PTH, PTHLH, PTH1R
34ribonucleic acid459.2PTH, PTHLH, PTH1R
35forskolin45 50 1111.2PTH1R, PTHLH, PTH
36hydroxyapatite459.2FGF23, PTHLH
37pge2459.2PTH1R, PTHLH, PTH
38thymidine45 2410.2PTH, PTHLH, PTH1R
39adenylate459.1PTH, PTHLH, PTH1R
40cyclic amp45 2410.1PTH, PTHLH, PTH1R
4125-hydroxyvitamin d459.0PTH, PTHLH, FGF23
42nitric oxide45 11 2410.9PTH, PTHLH, PTH1R
43creatinine458.8FGF23, PTHLH, PTH
44dexamethasone45 50 29 1111.8PTH, PTHLH, PTH1R
45phosphorus458.5PTH, PTHLH, PTH1R, FGF23
461,25 dihydroxy vitamin d3458.5FGF23, PTH1R, PTHLH, PTH
47calcitriol45 60 11 2411.5FGF23, PTH1R, PTHLH, PTH
48vitamin d458.5FGF23, PTH1R, PTHLH, PTH
49arginine458.2FGF23, PTHLH, PTH
50calcium45 50 11 2410.9PTH, PTHLH, PTH2R, PTH1R, FGF23

GO Terms for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Jansen's Metaphyseal Chondrodysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet