MCID: MTP026
MIFTS: 46

Metaphyseal Chondrodysplasia, Murk Jansen Type malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 12DISEASES, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 65UMLS, 22GeneTests, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metaphyseal Chondrodysplasia, Murk Jansen Type:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 49 11
Metaphyseal Chondrodysplasia, Jansen Type 22 51 24
Murk Jansen Type Metaphyseal Chondrodysplasia 10 45
Jansen Type Metaphyseal Chondrodysplasia 45 65
Jansen's Metaphyseal Chondrodysplasia 10 12
 
Jansen Metaphyseal Chondrodysplasia 10 67
Metaphyseal Chondrodysplasia Murk Jansen Type 45
Jansen Metaphyseal Dysostosis 10
Jansen Disease 10
Jmc 67

Characteristics:

Orphanet epidemiological data:

51
metaphyseal chondrodysplasia, jansen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
metaphyseal chondrodysplasia, murk jansen type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 156400
Disease Ontology10 DOID:0080020
Orphanet51 33067
ICD10 via Orphanet28 Q78.5
MESH via Orphanet37 C537564
UMLS via Orphanet66 C0265295
MedGen34 C0265295
UMLS65 C0265295

Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

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OMIM:49 The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs,... (156400) more...

MalaCards based summary: Metaphyseal Chondrodysplasia, Murk Jansen Type, also known as metaphyseal chondrodysplasia, jansen type, is related to tick-borne encephalitis and encephalitis, and has symptoms including craniofacial hyperostosis, micromelia and frontal bossing. An important gene associated with Metaphyseal Chondrodysplasia, Murk Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways are Osteoblast Signaling and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, and related mouse phenotypes are digestive/alimentary and craniofacial.

Disease Ontology:10 A metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism.

UniProtKB/Swiss-Prot:67 Jansen metaphyseal chondrodysplasia: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.

Related Diseases for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Diseases related to Metaphyseal Chondrodysplasia, Murk Jansen Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1tick-borne encephalitis10.5
2encephalitis10.5
3chondroma10.5PTH1R, PTHLH
4glioblastoma10.5
5glossopharyngeal nerve paralysis10.5PTH, PTHLH
6giant cell reparative granuloma10.5PTH, PTHLH
7hypervitaminosis a10.4FGF23, PTH
8walbaum titran durieux crepin syndrome10.4COL2A1, VCAN
9parathyroid adenoma10.4CALCA, PTH
10diabetic angiopathy10.4FGF23, PTH
11epileptic encephalopathy, early infantile, 2610.4PTH, PTH1R, PTHLH
12testicular microlithiasis10.4FGF23, PTH
13serous labyrinthitis10.4PTH, PTH1R, PTHLH
14chronic rheumatic pericarditis10.4CALCA, PTH
15articulation disorder10.4PTH, PTH1R, PTHLH
16dystrophies primarily involving the retinal pigment epithelium10.4COL2A1, VCAN
17eosinophilic pneumonia10.4PTH, PTH1R, PTHLH
18agraphia10.4IHH, PTH1R, PTHLH
19bone inflammation disease10.4CALCA, PTH
20hydranencephaly10.4IHH, PTH1R, PTHLH
21schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.3FGF23, FGFR3
22selective iga deficiency disease10.3PTCH1, PTH1R
23mucocele of appendix10.3CALCA, PTH1R
24smed strudwick type10.3COL2A1, TRPV4
25small cell cancer of the lung, somatic10.3PTH, PTH1R, PTHLH
26osteonecrosis10.3COL2A1, IHH
27dental enamel hypoplasia10.3CALCA, COL2A1
28dentin sensitivity10.3CALCA, SCT
29anus basaloid carcinoma10.3CALCA, PTH, PTHLH
30inhibited male orgasm10.3CALCA, SCT
31osteodysplasia familial anderson type10.3FGFR3, PTHLH
32paresthesia10.3CALCA, FGF23, PTHLH
33pachyonychia congenita10.3CALCA, FGF23, PTH
34marcus gunn phenomenon10.3CALCA, FGF23, PTHLH
35blood coagulation disease10.2CALCA, FGF23, PTH
36urachus cancer10.2COL2A1, VCAN
37chondrodysplasia, blomstrand type10.2IHH, PTCH1, PTH1R
38dementia10.2CALCA, FGF23, PTH
39bone development disease10.2CALCA, FGF23, PTH
40irritant dermatitis10.2FGFR3, PTHLH
41crouzon syndrome with acanthosis nigricans10.2FGFR3, PTH1R
42slc16a1-related hyperinsulinism10.2COL2A1, FGFR3, TRPV4
43darier disease10.2COL2A1, FGFR3, IHH
44collagenopathy, types ii and xi10.2CALCA, PTH1R
45angelucci's syndrome10.2CALCA, PTH, PTH1R, PTHLH
46congenital nervous system abnormality10.2FGF23, PTH
47gummatous syphilis10.2COL2A1, IHH, PTHLH, TRPV4
48primary hyperparathyroidism10.1CALCA, FGF23, PTH, PTHLH
49leukodystrophy10.1CALCA, FGF23, PTH, PTHLH
50african tick-bite fever10.1CALCA, FGF23, PTH, PTHLH

Graphical network of the top 20 diseases related to Metaphyseal Chondrodysplasia, Murk Jansen Type:



Diseases related to metaphyseal chondrodysplasia, murk jansen type

Symptoms for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Symptoms:

 51 (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 Metaphyseal Chondrodysplasia, Murk Jansen Type:

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

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metaphyseal Chondrodysplasia, Murk Jansen Type

Genetic Tests for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Genetic tests related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

id Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Jansen Type22 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Murk Jansen Type

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MalaCards organs/tissues related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

33
Bone

Animal Models for Metaphyseal Chondrodysplasia, Murk Jansen Type or affiliated genes

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MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6COL2A1, FGF23, FGFR3, IHH, PTCH1, PTH1R
2MP:00053828.4COL2A1, FGFR3, IHH, PTCH1, PTH, PTH1R
3MP:00053918.1ATF2, COL2A1, FGFR3, IHH, PTCH1, PTHLH
4MP:00107717.9ATF2, CRH, FGF23, FGFR3, PTCH1, PTHLH
5MP:00053677.6COL2A1, CRH, FGF23, FGFR3, PTCH1, PTHLH
6MP:00053857.2ATF2, COL2A1, FGF23, IHH, PTCH1, PTH
7MP:00036317.1ATF2, COL2A1, CRH, FGFR3, IHH, PTCH1
8MP:00053887.0ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
9MP:00053866.9ATF2, COL2A1, CRH, FGFR3, PTCH1, PTH1R
10MP:00053716.8ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
11MP:00053786.4ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
12MP:00053906.4ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
13MP:00053876.3ATF2, COL2A1, CRH, FGF23, FGFR3, PTCH1
14MP:00053765.9ATF2, COL2A1, CRH, FGF23, FGFR3, PTCH1

Publications for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Variations for Metaphyseal Chondrodysplasia, Murk Jansen Type

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UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Chondrodysplasia, Murk Jansen Type:

67
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 Metaphyseal Chondrodysplasia, Murk Jansen Type:

5
id Gene Variation 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 Metaphyseal Chondrodysplasia, Murk Jansen Type

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Search GEO for disease gene expression data for Metaphyseal Chondrodysplasia, Murk Jansen Type.

Pathways for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

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Pathways related to Metaphyseal Chondrodysplasia, Murk Jansen Type according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGF23, PTH, PTH1R
29.6CALCA, PTH, PTH1R
39.6PTH1R, SCTR
49.6COL2A1, PTH, VCAN
5
Show member pathways
9.5IHH, PTCH1, PTHLH
69.1IHH, PTCH1, PTH, PTH1R, PTHLH
78.6ATF2, COL2A1, FGF23, FGFR3
88.3COL2A1, FGFR3, IHH, PTCH1, PTH, PTH1R
9
Show member pathways
8.2ADCY2, ATF2, CALCA, CRH
10
Show member pathways
7.9ADCY2, ATF2, CRH, IHH, PTCH1
117.4ADCY2, CALCA, CRH, PTH, PTH1R, PTHLH
12
Show member pathways
7.2CALCA, CRH, IHH, PTCH1, PTH, PTH1R
13
Show member pathways
6.7ADCY2, CALCA, CRH, IHH, PTCH1, PTH
14
Show member pathways
6.0ADCY2, CALCA, CRH, FGF23, FGFR3, IHH

GO Terms for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

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Biological processes related to Metaphyseal Chondrodysplasia, Murk Jansen Type according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:004605810.6PTH, PTHLH
2endochondral ossificationGO:000195810.3COL2A1, FGFR3
3positive regulation of ossificationGO:004577810.2CALCA, PTH
4somite developmentGO:006105310.2IHH, PTCH1
5regulation of gene expressionGO:001046810.0COL2A1, PTH, PTHLH
6adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:000718810.0ADCY2, PTH1R
7response to osmotic stressGO:000697010.0ATF2, TRPV4
8negative regulation of blood pressureGO:00457769.8CALCA, CRH
9hormone-mediated apoptotic signaling pathwayGO:00086289.7CRH, PTH
10cell-cell signalingGO:00072679.7CALCA, PTH, PTHLH
11positive regulation of cAMP biosynthetic processGO:00308199.6CALCA, CRH
12activation of adenylate cyclase activityGO:00071909.3ADCY2, CALCA
13positive regulation of cell proliferationGO:00082849.0CRH, FGFR3, PTH1R, PTHLH

Sources for Metaphyseal Chondrodysplasia, Murk Jansen Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet