MCID: JNS002
MIFTS: 56

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

MalaCards based summary: Jansen's Metaphyseal Chondrodysplasia, also known as jansen type metaphyseal chondrodysplasia, is related to chondrodysplasia and spondyloepimetaphyseal dysplasia, 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 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:46 156400

Aliases & Classifications for Jansen's Metaphyseal Chondrodysplasia

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Jansen's Metaphyseal Chondrodysplasia, Aliases & Descriptions:

Name: Jansen's Metaphyseal Chondrodysplasia 8
Jansen Type Metaphyseal Chondrodysplasia 42 20 22 62
Metaphyseal Chondrodysplasia, Murk Jansen Type 9 46 62
Murk Jansen Type Metaphyseal Chondrodysplasia 8 42
Metaphyseal Chondrodysplasia Murk Jansen Type 42 62
 
Metaphyseal Chondrodysplasia, Jansen Type 48
Chondrodysplasia, Hereditary Deforming 62
Jansen Metaphyseal Chondrodysplasia 8
Jansen Metaphyseal Dysostosis 8
Jansen Disease 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:0080020
OMIM46 156400
MESH via Orphanet35 C537564
ICD10 via Orphanet26 Q78.5
UMLS via Orphanet63 C0265295

Related Diseases for Jansen's Metaphyseal Chondrodysplasia

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia10.5
2spondyloepimetaphyseal dysplasia10.4
3ollier disease10.4PTHLH
4brachydactyly10.3PTH
5hypervitaminosis d10.3FGF23
6mccune albright syndrome10.2FGF23
7metaphyseal dysplasia10.2PTH1R, PTHLH
8skeletal dysplasia multi-gene panels10.1PTHLH, PTH1R
9parathyroid adenoma10.1PTH, PTHLH
10osteoporosis, postmenopausal10.1PTHLH, PTH
11paraneoplastic syndromes10.0FGF23, PTHLH
12cholera10.0PTH, PTH1R
13renal osteodystrophy10.0FGF23, PTH
14x-linked hypophosphatemia10.0FGF23, PTH
15calcinosis9.9PTH, FGF23
16hyperphosphatemia9.9FGF23, PTH
17pseudohypoparathyroidism type 1b9.9PTH, PTH1R, PTHLH
18pseudohypoparathyroidism9.9PTH, PTH1R, PTHLH
19dwarfism9.9PTHLH, PTH1R, PTH
20chondrosarcoma9.9PTHLH, PTH1R
21rickets9.9FGF23, PTH
22nephrolithiasis9.8FGF23, PTH
23osteosarcoma9.8PTH, PTH1R, PTHLH
24hyperthyroidism9.8FGF23, PTH
25hypophosphatemia9.8PTH, PTHLH, FGF23
26secondary hyperparathyroidism of renal origin9.8FGF23, PTHLH, PTH
27hyperparathyroidism9.8PTH, PTHLH, FGF23
28hypoparathyroidism9.6FGF23, PTHLH, PTH1R, PTH
29primary hyperparathyroidism9.6PTH, PTH1R, PTHLH, FGF23
30osteomalacia9.6FGF23, PTHLH, PTH1R, PTH
31hypercalcemia9.6PTH, PTH1R, PTHLH, FGF23
32secondary syphilis9.6FGF23, PTHLH, PTH1R, PTH
33osteoporosis9.6FGF23, PTHLH, PTH1R, PTH
34primary hyperoxaluria9.6PTH, PTH1R, PTHLH, FGF23
35chronic kidney failure9.6PTH, 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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Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Symptoms:

48 (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

HPO human phenotypes related to Jansen's Metaphyseal Chondrodysplasia:

(show all 50)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 prominent supraorbital ridges hallmark (90%) HP:0000336
3 micrognathia hallmark (90%) HP:0000347
4 proptosis hallmark (90%) HP:0000520
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 limitation of joint mobility hallmark (90%) HP:0001376
7 frontal bossing hallmark (90%) HP:0002007
8 micromelia hallmark (90%) HP:0002983
9 short stature hallmark (90%) HP:0004322
10 craniofacial hyperostosis hallmark (90%) HP:0004493
11 micrognathia typical (50%) HP:0000347
12 narrow chest typical (50%) HP:0000774
13 hypoparathyroidism typical (50%) HP:0000829
14 brachydactyly syndrome typical (50%) HP:0001156
15 hypercalcemia typical (50%) HP:0003072
16 clinodactyly of the 5th finger typical (50%) HP:0004209
17 increased bone mineral density typical (50%) HP:0011001
18 abnormality of calcium-phosphate metabolism typical (50%) HP:0100530
19 sensorineural hearing impairment occasional (7.5%) HP:0000407
20 autosomal dominant inheritance HP:0000006
21 nephrocalcinosis HP:0000121
22 brachycephaly HP:0000248
23 hypertelorism HP:0000316
24 micrognathia HP:0000347
25 hearing impairment HP:0000365
26 choanal stenosis HP:0000452
27 choanal atresia HP:0000453
28 proptosis HP:0000520
29 misalignment of teeth HP:0000692
30 short ribs HP:0000773
31 hypoparathyroidism HP:0000829
32 osteopenia HP:0000938
33 hypophosphatemia HP:0002148
34 hypercalciuria HP:0002150
35 waddling gait HP:0002515
36 thick skull base HP:0002737
37 pathologic fracture HP:0002756
38 metaphyseal cupping HP:0003021
39 short long bones HP:0003026
40 hypercalcemia HP:0003072
41 hyperphosphaturia HP:0003109
42 elevated alkaline phosphatase HP:0003155
43 hip contracture HP:0003273
44 severe short stature HP:0003510
45 clinodactyly of the 5th finger HP:0004209
46 prominent supraorbital arches in adult HP:0004676
47 metaphyseal chondrodysplasia HP:0005871
48 knee flexion contracture HP:0006380
49 bowing of the long bones HP:0006487
50 clubbing of fingers HP:0100759

Drugs & Therapeutics for Jansen's Metaphyseal Chondrodysplasia

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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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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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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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MGI Mouse Phenotypes related to Jansen's Metaphyseal Chondrodysplasia:

36
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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Articles related to Jansen's Metaphyseal Chondrodysplasia:

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
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
3
The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia. (12198252)
2002
4
Jansen's metaphyseal chondrodysplasia. (10781242)
2000
5
The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia. (11021773)
2000
6
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. (10487664)
1999
7
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
8
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (8703170)
1996
9
Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation. (18406742)
1996
10
Murk Jansen's metaphyseal chondrodysplasia with long-term followup. (3562109)
1987

Variations for Jansen's Metaphyseal Chondrodysplasia

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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:

6
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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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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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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Compounds related to Jansen's Metaphyseal Chondrodysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1tip39289.9PTH1R, PTH2R
2pthrp-(7-34) (human, rat, mouse)289.9PTH1R, PTH2R
3pth-(1-34) (rat)289.9PTH2R, PTH1R
4[trp23]pthrp-(1-36) (human)289.9PTH2R, PTH1R
5[d-trp12,tyr34]pth-(7-34) (bovine)289.9PTH2R, PTH1R
6[phe23]pth-(1-34) (human)289.9PTH1R, PTH2R
7[d-trp12]pth-(7-34) (bovine)289.9PTH1R, PTH2R
8[his5]pth-(1-34) (human)289.9PTH2R, PTH1R
9pthrp-(1-36)289.9PTH2R, PTH1R
10[ile5,trp23]pthrp-(5-36)289.9PTH2R, PTH1R
11[trp23,tyr36]pthrp-(1-36)-nh2 (human)289.9PTH2R, PTH1R
12parathyroid hormone (1-34) (human)619.9PTH1R, PTH2R
13[ile5,trp23]pthrp-(3-36) (human)289.9PTH2R, PTH1R
14[ile5,trp23]pthrp-(1-36) (human)289.9PTH2R, PTH1R
15[125i][nle8,21,tyr34]pth-(1-34)-nh2 (rat)289.9PTH2R, PTH1R
16tip39-(7-39) (human/bovine)289.9PTH2R, PTH1R
17pthrp-(1-21)/pth-(22-34) (human)289.9PTH1R, PTH2R
18pth-(1-34) (human)289.9PTH2R, PTH1R
19[ile5,trp23]pthrp-(4-36) (human)289.9PTH2R, PTH1R
20tip39-(9-39) (human/bovine)289.9PTH2R, PTH1R
21[ile5,trp23,tyr36]pthrp-(1-36)-nh2 (human)289.9PTH2R, PTH1R
22[ile5,trp23]pthrp-(2-36) (human)289.9PTH2R, PTH1R
23ccl444 2810.7PTH1R, PTHLH
24calcium carbonate449.7PTHLH, PTH
25pamidronate44 50 1111.7PTHLH, PTH
26alendronate44 50 1111.6PTH, PTHLH
27leupeptin449.6PTHLH, PTH
28hydroxyproline44 24 1111.6PTHLH, PTH
29dbc-amp449.5PTH1R, PTHLH
30bicarbonate449.4PTH, PTHLH
31ag 1478449.4PTHLH, PTH
32octreotide44 61 28 1112.3FGF23, PTHLH
33hydroxyapatite449.3FGF23, PTHLH
34aprotinin44 1110.2PTHLH, PTH
35ibmx44 61 2811.2PTH, PTH1R, PTHLH
36ribonucleic acid449.2PTH, PTH1R, PTHLH
37forskolin44 50 1111.2PTHLH, PTH1R, PTH
38pge2449.2PTHLH, PTH1R, PTH
39thymidine44 2410.2PTH, PTH1R, PTHLH
40adenylate449.1PTHLH, PTH1R, PTH
41cyclic amp44 2410.1PTH, PTH1R, PTHLH
4225-hydroxyvitamin d449.0FGF23, PTHLH, PTH
43creatinine448.8PTH, PTHLH, FGF23
44dexamethasone44 50 28 1111.6PTHLH, PTH1R, PTH
45arginine448.5FGF23, PTHLH, PTH
46phosphorus448.5FGF23, PTHLH, PTH1R, PTH
471,25 dihydroxy vitamin d3448.5PTH, PTH1R, PTHLH, FGF23
48calcitriol44 61 24 1111.5FGF23, PTHLH, PTH1R, PTH
49vitamin d448.5PTH, PTH1R, PTHLH, FGF23
50calcium44 50 24 1110.9PTH2R, PTH, PTH1R, PTHLH, FGF23

GO Terms for genes affiliated with Jansen's Metaphyseal Chondrodysplasia

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet