MCID: JNS002
MIFTS: 55

Jansen's Metaphyseal Chondrodysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Jansen's Metaphyseal Chondrodysplasia

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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 spondyloepimetaphyseal dysplasia, and has symptoms including short hand/brachydactyly, clinodactyly of fifth finger and hypoparathyroidy. An important gene associated with Jansen's Metaphyseal Chondrodysplasia is PTH1R (parathyroid hormone 1 receptor), and among its related pathways are GPCRs, Class B Secretin-like and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds tip39 and pthrp-(7-34) (human, rat, mouse) have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and respiratory system.

Description from OMIM:47 156400

Aliases & Classifications for Jansen's Metaphyseal Chondrodysplasia

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
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 chondrodysplasia 8
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 Orphanet59 24629003
UMLS via Orphanet63 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 36)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia10.5
2spondyloepimetaphyseal dysplasia10.4
3ollier disease10.1PTHLH
4brachydactyly10.1PTH
5hypervitaminosis d10.1FGF23
6mccune albright syndrome10.1FGF23
7osteochondrodysplasia10.0PTHLH, PTH1R
8metaphyseal dysplasia10.0PTH1R, PTHLH
9skeletal dysplasias10.0PTHLH, PTH1R
10parathyroid adenoma10.0PTH, PTHLH
11osteoporosis, postmenopausal10.0PTHLH, PTH
12paraneoplastic syndromes10.0FGF23, PTHLH
13cholera10.0PTH, PTH1R
14renal osteodystrophy10.0FGF23, PTH
15x-linked hypophosphatemia10.0FGF23, PTH
16calcinosis10.0PTH, FGF23
17hyperphosphatemia10.0FGF23, PTH
18pseudohypoparathyroidism type 1b10.0PTH, PTH1R, PTHLH
19pseudohypoparathyroidism10.0PTH, PTH1R, PTHLH
20dwarfism10.0PTHLH, PTH1R, PTH
21chondrosarcoma10.0PTHLH, PTH1R
22rickets10.0FGF23, PTH
23nephrolithiasis10.0FGF23, PTH
24osteosarcoma10.0PTH, PTH1R, PTHLH
25hyperthyroidism9.9FGF23, PTH
26hypophosphatemia9.9PTH, PTHLH, FGF23
27secondary hyperparathyroidism of renal origin9.9FGF23, PTHLH, PTH
28hyperparathyroidism9.9PTH, PTHLH, FGF23
29hypoparathyroidism9.9FGF23, PTHLH, PTH1R, PTH
30primary hyperparathyroidism9.9PTH, PTH1R, PTHLH, FGF23
31osteomalacia9.9FGF23, PTHLH, PTH1R, PTH
32hypercalcemia9.9PTH, PTH1R, PTHLH, FGF23
33secondary syphilis9.9FGF23, PTHLH, PTH1R, PTH
34osteoporosis9.9FGF23, PTHLH, PTH1R, PTH
35primary hyperoxaluria9.9PTH, PTH1R, PTHLH, FGF23
36chronic kidney failure9.9PTH, PTH1R, PTHLH, FGF23

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



Diseases related to jansen's metaphyseal chondrodysplasia

Symptoms for Jansen's Metaphyseal Chondrodysplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Symptoms:

49 (show all 20)
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • hypoparathyroidy
  • osteosclerosis/osteopetrosis/bone condensation
  • enlarged diaphysis/diaphyses
  • phosphocalcic metabolism anomalies
  • hypercalcemia
  • sensorineural deafness/hearing loss
  • narrow rib cage/thorax
  • hypoplastic mandibula/partial absence of the mandibula
  • short stature/dwarfism/nanism
  • 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
  • dense/thickened skull/calvarium/cranial/facial hyperostosis

Drugs & Therapeutics for Jansen's Metaphyseal Chondrodysplasia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Jansen's Metaphyseal Chondrodysplasia

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Jansen's Metaphyseal Chondrodysplasia:

33
Bone

Animal Models for Jansen's Metaphyseal Chondrodysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Jansen's Metaphyseal Chondrodysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9PTHLH, PTH1R, PTH
2MP:00053888.6FGF23, PTHLH, PTH1R
3MP:00053818.4PTH1R, PTHLH, FGF23
4MP:00053718.2FGF23, PTHLH, PTH1R, PTH
5MP:00053908.2PTH, PTH1R, PTHLH, FGF23
6MP:00053788.1PTH, PTH1R, PTHLH, FGF23
7MP:00053768.1FGF23, PTHLH, PTH1R, PTH

Publications for Jansen's Metaphyseal Chondrodysplasia

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52PubMed
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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

Variations for Jansen's Metaphyseal Chondrodysplasia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Jansen's Metaphyseal Chondrodysplasia:

64
id Symbol AA change Variation ID SNP ID
1PTH1Rp.His223ArgVAR_003582
2PTH1Rp.Thr410ProVAR_003583
3PTH1Rp.Ile458ArgVAR_016064
4PTH1Rp.Thr410ArgVAR_038811

Clinvar genetic disease variations for Jansen's Metaphyseal Chondrodysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTH1RNM_000316.2(PTH1R): c.668A> G (p.His223Arg)single nucleotide variantPathogenicrs121434597GRCh37Chr 3, 46940181: 46940181
2PTH1RNM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro)single nucleotide variantPathogenicrs121434598GRCh37Chr 3, 46944032: 46944032
3PTH1RNM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg)single nucleotide variantPathogenicrs121434600GRCh37Chr 3, 46944258: 46944258
4PTH1RNM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg)single nucleotide variantPathogenicrs121434602GRCh37Chr 3, 46944033: 46944033

Expression for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 53QIAGEN, 51PharmGKB, 30KEGG
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Pathways related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PTH1R, PTH2R
29.4PTH1R, PTH
38.9PTH1R, PTHLH, PTH
48.9PTH, PTH1R, PTHLH
58.6PTH, PTH1R, FGF23
6
Show member pathways
8.4PTH2R, PTH, PTH1R, PTHLH
78.4PTH2R, PTH, PTH1R, PTHLH
8
Show member pathways
8.4PTH2R, PTHLH, PTH, PTH1R
9
Show member pathways
7.5PTH2R, PTHLH, FGF23, PTH1R, PTH

Compounds for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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29IUPHAR, 61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1tip39299.9PTH1R, PTH2R
2pthrp-(7-34) (human, rat, mouse)299.9PTH1R, PTH2R
3pth-(1-34) (rat)299.9PTH2R, PTH1R
4[trp23]pthrp-(1-36) (human)299.9PTH2R, PTH1R
5[d-trp12,tyr34]pth-(7-34) (bovine)299.9PTH2R, PTH1R
6[phe23]pth-(1-34) (human)299.9PTH1R, PTH2R
7[d-trp12]pth-(7-34) (bovine)299.9PTH1R, PTH2R
8[his5]pth-(1-34) (human)299.9PTH2R, PTH1R
9pthrp-(1-36)299.9PTH2R, PTH1R
10[ile5,trp23]pthrp-(5-36)299.9PTH2R, PTH1R
11[trp23,tyr36]pthrp-(1-36)-nh2 (human)299.9PTH2R, PTH1R
12parathyroid hormone (1-34) (human)619.9PTH1R, PTH2R
13[ile5,trp23]pthrp-(3-36) (human)299.9PTH2R, PTH1R
14[ile5,trp23]pthrp-(1-36) (human)299.9PTH2R, PTH1R
15[125i][nle8,21,tyr34]pth-(1-34)-nh2 (rat)299.9PTH2R, PTH1R
16tip39-(7-39) (human/bovine)299.9PTH2R, PTH1R
17pthrp-(1-21)/pth-(22-34) (human)299.9PTH1R, PTH2R
18pth-(1-34) (human)299.9PTH2R, PTH1R
19[ile5,trp23]pthrp-(4-36) (human)299.9PTH2R, PTH1R
20tip39-(9-39) (human/bovine)299.9PTH2R, PTH1R
21[ile5,trp23,tyr36]pthrp-(1-36)-nh2 (human)299.9PTH2R, PTH1R
22[ile5,trp23]pthrp-(2-36) (human)299.9PTH2R, PTH1R
23ccl445 2910.7PTH1R, PTHLH
24calcium carbonate459.7PTHLH, PTH
25pamidronate45 51 1111.7PTHLH, PTH
26alendronate45 51 1111.6PTH, PTHLH
27leupeptin459.6PTHLH, PTH
28hydroxyproline45 24 1111.6PTHLH, PTH
29dbc-amp459.5PTH1R, PTHLH
30bicarbonate459.4PTH, PTHLH
31ag 1478459.4PTHLH, PTH
32octreotide45 61 29 1112.3FGF23, PTHLH
33hydroxyapatite459.3FGF23, PTHLH
34aprotinin45 1110.2PTHLH, PTH
35ibmx45 61 2911.2PTH, PTH1R, PTHLH
36ribonucleic acid459.2PTH, PTH1R, PTHLH
37forskolin45 51 1111.2PTHLH, PTH1R, PTH
38pge2459.2PTHLH, PTH1R, PTH
39thymidine45 2410.2PTH, PTH1R, PTHLH
40adenylate459.1PTHLH, PTH1R, PTH
41cyclic amp45 2410.1PTH, PTH1R, PTHLH
4225-hydroxyvitamin d459.0FGF23, PTHLH, PTH
43creatinine458.8PTH, PTHLH, FGF23
44dexamethasone45 51 29 1111.6PTHLH, PTH1R, PTH
45arginine458.5FGF23, PTHLH, PTH
46phosphorus458.5FGF23, PTHLH, PTH1R, PTH
471,25 dihydroxy vitamin d3458.5PTH, PTH1R, PTHLH, FGF23
48calcitriol45 61 24 1111.5FGF23, PTHLH, PTH1R, PTH
49vitamin d458.5PTH, PTH1R, PTHLH, FGF23
50calcium45 51 24 1110.9PTH2R, PTH, PTH1R, PTHLH, FGF23

GO Terms for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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16Gene Ontology
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Cellular components related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5FGF23, PTHLH, PTH

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1osteoblast developmentGO:0020769.6PTH1R, PTHLH
2cAMP metabolic processGO:0460589.5PTHLH, PTH
3bone resorptionGO:0454539.4PTH1R, PTH
4regulation of gene expressionGO:0104689.3PTHLH, PTH
5adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.1PTHLH, PTH1R, PTH
6positive regulation of cAMP biosynthetic processGO:0308199.0PTHLH, PTH
7skeletal system developmentGO:0015019.0PTHLH, PTH1R, PTH
8G-protein coupled receptor signaling pathwayGO:0071868.8PTH2R, PTH, PTH1R

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

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

Products for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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  • Antibodies
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Sources for Jansen's Metaphyseal Chondrodysplasia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet