MCID: MTP026
MIFTS: 46

Metaphyseal Chondrodysplasia, Murk Jansen Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

Aliases & Descriptions for Metaphyseal Chondrodysplasia, Murk Jansen Type:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


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

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 jansen type metaphyseal chondrodysplasia, is related to spondyloepimetaphyseal dysplasia and lateral myocardial infarction, and has symptoms including hypertelorism, micrognathia and proptosis. 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 craniofacial and hearing/vestibular/ear.

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia10.4
2lateral myocardial infarction10.3PTH1R, PTHLH
3lown-ganong-levine syndrome10.3PTH, PTHLH
4anterior compartment syndrome10.3PTH1R, PTHLH
5paresthesia10.3FGF23, PTHLH
6hypervitaminosis a10.3FGF23, PTH
7osteoarthropathy of fingers familial10.3PTH, PTH1R
8walbaum titran durieux crepin syndrome10.2COL2A1, VCAN
9breast rhabdomyosarcoma10.2PTH, PTHLH
10epileptic encephalopathy, early infantile, 2610.2PTH, PTH1R, PTHLH
11adams-oliver syndrome10.2IHH, PTH1R, PTHLH
12waldeyer's ring cancer10.2CALCA, PTH
13bronchus carcinoma in situ10.2PTH, PTH1R, PTHLH
14pseudosarcomatous fibromatosis10.2PTH, PTH1R, PTHLH
15onychocytic matricoma10.2FGF23, PTH, PTHLH
16hydranencephaly10.2IHH, PTH1R, PTHLH
17cervical serous adenocarcinoma10.2COL2A1, VCAN
18mucolipidosis10.2CALCA, PTH
19schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.2FGF23, FGFR3
20heart conduction disease10.2PTCH1, PTH1R
21cannabis dependence10.2CALCA, PTH, PTH1R
22juxtacortical osteosarcoma10.2PTH, PTHLH
23anal buschke-lowenstein tumor10.2CALCA, PTH, PTHLH
24marcus gunn phenomenon10.2CALCA, FGF23, PTHLH
25autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency10.2FGFR3, PTH1R, PTHLH
26brachydactyly, type a110.2IHH, PTCH1
27prostatic cyst10.2CALCA, FGF23, PTH
28hereditary elliptocytosis10.2CALCA, FGF23, PTH
29gastric hemangioma10.2FGFR3, PTHLH
30micropapillary variant infiltrating bladder urothelial carcinoma10.1CALCA, SCT
31small cell cancer of the lung, somatic10.1PTH, PTH1R, PTHLH
32neuroectodermal tumor10.1CALCA, FGF23, PTH
33ureter inverted papilloma10.1CALCA, COL2A1
34osteomyelitis10.1COL2A1, FGFR3, PTH1R
35achondrogenesis, type ii or hypochondrogenesis10.1COL2A1, TRPV4
36impetigo10.1FGF23, PTH
37slc16a1-related hyperinsulinism10.1COL2A1, FGFR3, TRPV4
38hyperhomocysteinemia10.1COL2A1, VCAN
39facial neuralgia10.1CALCA, PTH, PTH1R, PTHLH
40hereditary lymphedema10.1COL2A1, IHH, PTHLH, TRPV4
41candidiasis10.1CALCA, FGF23, PTH, PTHLH
42parietal lobe neoplasm10.1CALCA, FGF23, PTH, PTHLH
43mite infestation10.1CALCA, FGF23, PTH, PTHLH
44serous conjunctivitis except viral10.1CALCA, FGF23, PTH, PTHLH
45hyperpituitarism10.1CALCA, FGF23, PTH, PTHLH
46hypoaldosteronism10.1CALCA, CRH, PTHLH
47nephrocalcinosis10.0CALCA, FGF23, PTH, PTH1R, PTHLH
48osteoporosis10.0CALCA, FGF23, PTH, PTH1R, PTHLH
49skeleto cardiac syndrome with thrombocytopenia9.9COL2A1, FGFR3, PTH1R, PTHLH, TRPV4
50synovial chondromatosis, familial with dwarfism9.9COL2A1, FGFR3

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

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 24 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 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8COL2A1, FGFR3, IHH, PTCH1, PTH, PTH1R
2MP:00053778.7ATF2, CALCA, COL2A1, FGFR3, TRPV4
3MP:00053818.7COL2A1, FGF23, FGFR3, IHH, PTCH1, PTH1R
4MP:00053918.2ATF2, COL2A1, FGFR3, IHH, PTCH1, PTHLH
5MP:00053677.9CALCA, COL2A1, FGF23, FGFR3, PTCH1, PTHLH
6MP:00028737.7ATF2, CALCA, COL2A1, CRH, FGFR3, PTCH1
7MP:00053857.5ATF2, CALCA, COL2A1, FGF23, IHH, PTCH1
8MP:00053717.4ATF2, COL2A1, FGF23, FGFR3, IHH, PTCH1
9MP:00107717.3ATF2, CALCA, CRH, FGF23, FGFR3, PTCH1
10MP:00107687.1ATF2, CALCA, COL2A1, FGF23, FGFR3, IHH
11MP:00053907.0ATF2, CALCA, COL2A1, FGF23, FGFR3, IHH
12MP:00053787.0ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
13MP:00053976.9ATF2, CRH, FGF23, FGFR3, PTCH1, PTH
14MP:00053886.5ATF2, CALCA, COL2A1, CRH, FGF23, FGFR3
15MP:00053876.3ATF2, COL2A1, CRH, FGF23, FGFR3, PTCH1
16MP:00036316.2ATF2, CALCA, COL2A1, CRH, FGFR3, IHH
17MP:00053866.2ATF2, CALCA, COL2A1, CRH, FGFR3, PTCH1
18MP:00053766.0ATF2, CALCA, CRH, FGF23, FGFR3, PTH

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 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FGF23, PTH, PTH1R
29.6CALCA, PTH, PTH1R
39.6PTH1R, SCTR
4
Show member pathways
9.5IHH, PTCH1, PTHLH
59.1IHH, PTCH1, PTH, PTH1R, PTHLH
68.7ATF2, COL2A1, FGF23, FGFR3
78.3COL2A1, FGFR3, IHH, PTCH1, PTH, PTH1R
8
Show member pathways
8.2ADCY2, ATF2, CALCA, CRH
9
Show member pathways
7.9ADCY2, ATF2, CRH, IHH, PTCH1
107.4ADCY2, CALCA, CRH, PTH, PTH1R, PTHLH
11
Show member pathways
7.2CALCA, CRH, IHH, PTCH1, PTH, PTH1R
12
Show member pathways
6.7ADCY2, CALCA, CRH, IHH, PTCH1, PTH
13
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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Cellular components related to Metaphyseal Chondrodysplasia, Murk Jansen Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.6CALCA, COL2A1, CRH, FGF23, IHH, PTH
2extracellular regionGO:00055767.2CALCA, COL2A1, CRH, FGF23, FGFR3, PTH

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:004605810.7PTH, PTHLH
2osteoblast developmentGO:000207610.7PTH1R, PTHLH
3chondrocyte proliferationGO:003598810.5FGFR3, IHH
4positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.4FGF23, FGFR3
5positive regulation of ossificationGO:004577810.4CALCA, PTH
6vasculature developmentGO:000194410.4CALCA, IHH
7somite developmentGO:006105310.3IHH, PTCH1
8negative regulation of smoothened signaling pathwayGO:004587910.2FGFR3, PTCH1
9bone resorptionGO:004545310.2IHH, PTH, PTH1R
10hormone-mediated apoptotic signaling pathwayGO:000862810.1CRH, PTH
11response to osmotic stressGO:00069709.9ATF2, TRPV4
12positive regulation of cytosolic calcium ion concentrationGO:00072049.9CALCA, PTH1R, TRPV4
13response to painGO:00482659.9CALCA, CRH
14proteoglycan metabolic processGO:00060299.8COL2A1, IHH
15ossificationGO:00015039.8COL2A1, IHH, PTH1R
16cell-cell signalingGO:00072679.7CALCA, IHH, PTH, PTHLH
17endochondral ossificationGO:00019589.6COL2A1, FGFR3, PTHLH
18cellular calcium ion homeostasisGO:00068749.6CALCA, PTH, PTH1R, TRPV4
19chondrocyte differentiationGO:00020629.5COL2A1, FGFR3, PTH1R
20adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.3ADCY2, CALCA, PTH, PTH1R, PTHLH
21cartilage developmentGO:00512169.2COL2A1, FGFR3, IHH
22positive regulation of cAMP biosynthetic processGO:00308199.2CALCA, CRH, PTH, PTHLH, SCT
23positive regulation of cell proliferationGO:00082849.0CRH, FGFR3, IHH, PTH1R, PTHLH
24skeletal system developmentGO:00015018.5COL2A1, FGFR3, IHH, PTH, PTH1R, PTHLH

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:005142810.3PTH, PTHLH
2patched bindingGO:000511310.1IHH, PTCH1
3hormone activityGO:00051798.8CALCA, CRH, PTH, PTHLH, SCT

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