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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metaphyseal Chondrodysplasia, Murk Jansen Type:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 50 12
Metaphyseal Chondrodysplasia, Jansen Type 50 23 52
Jansen Type Metaphyseal Chondrodysplasia 46 25 66
Murk Jansen Type Metaphyseal Chondrodysplasia 11 46
Jansen's Metaphyseal Chondrodysplasia 11 13
 
Jansen Metaphyseal Chondrodysplasia 11 68
Metaphyseal Chondrodysplasia Murk Jansen Type 46
Jansen Metaphyseal Dysostosis 11
Jansen Disease 11
Jmc 68

Characteristics:

Orphanet epidemiological data:

52
metaphyseal chondrodysplasia, jansen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
metaphyseal chondrodysplasia, murk jansen type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 156400
Disease Ontology11 DOID:0080020
Orphanet52 ORPHA33067
ICD10 via Orphanet29 Q78.5
MESH via Orphanet38 C537564
UMLS via Orphanet67 C0265295
MedGen35 C0265295

Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

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OMIM:50 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 adenomyoma and cranial nerve palsy, 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 Signaling events mediated by the Hedgehog family and Osteoblast Signaling. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and digestive/alimentary.

Disease Ontology:11 A metaphyseal dysplasia that has material basis in mutation in pth receptor which results in short-limbed dwarfism.

UniProtKB/Swiss-Prot:68 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1adenomyoma10.8PTH1R, PTHLH
2cranial nerve palsy10.7PTH, PTHLH
3adult pineal parenchymal tumor10.7PTH, PTHLH
4acidophil adenoma10.7PTH, PTHLH
5substance dependence10.6FGF23, PTH
6chronic rheumatic pericarditis10.6PTH, PTHLH
7gestational diabetes10.6FGF23, PTH
8obesity, severe bmiq910.6PTH, PTH1R, PTHLH
9testicular microlithiasis10.6FGF23, PTH
10hypochondrogenesis10.6CALCA, PTH
11vacterl association10.6PTH, PTH1R, PTHLH
12echolalia10.6PTH, PTH1R, PTHLH
13fryns macrocephaly10.5IHH, PTH1R, PTHLH
14neuropathy, ataxia, and retinitis pigmentosa10.5IHH, PTH1R, PTHLH
15familial erythema nodosum10.5COL2A1, VCAN
16parathyroid transitional clear cell adenoma10.5CALCA, PTH
17smed strudwick type10.5COL2A1, TRPV4
18sensory peripheral neuropathy10.5FGF23, PTH
19ureteric orifice cancer10.5COL2A1, VCAN
20polyradiculopathy10.5CALCA, PTH
21retinal dystrophy in systemic or cerebroretinal lipidoses10.5COL2A1, VCAN
22onychotrichodysplasia and neutropenia10.5FGF23, PTH, PTHLH
23ptosis, strabismus, and ectopic pupils10.5COL2A1, PTH1R, PTHLH
24small cell cancer of the lung, somatic10.5PTH, PTH1R, PTHLH
25dyscalculia10.5CALCA, PTH
26malignant pleural solitary fibrous tumor10.5COL2A1, TRPV4
27acromesomelic dysplasia10.4COL2A1, TRPV4
28t cell deficiency10.4FGF23, PTH, PTHLH
29cystic echinococcosis10.4FGF23, PTH, TRPV4
30contact dermatitis10.4FGFR3, PTHLH
31epidermal nevus, somatic10.4FGF23, FGFR3
32impotence10.4CALCA, PTH, PTH1R
33papillary extrahepatic bile duct adenocarcinoma10.4CALCA, COL2A1
34glycoproteinosis10.4CALCA, PTH, PTHLH
35acquired hyperkeratosis10.4CALCA, PTH, PTH1R
36neuropathy, distal hereditary motor, type iia10.3COL2A1, FGFR3
37osteopetrosis10.3COL2A1, IHH
38anal buschke-lowenstein tumor10.3CALCA, PTH, PTHLH
39peripheral epithelioid sarcoma10.3CALCA, SCT
40osteopetrosis and infantile neuroaxonal dystrophy10.3FGFR3, PTHLH
41chondrodysplasia, blomstrand type10.3HHIP, IHH, PTH, PTH1R
42mild phosphoribosylpyrophosphate synthetase superactivity10.3FGFR3, PTH1R, PTHLH
43capillariasis10.3CALCA, FGF23, PTH
44primrose syndrome10.3CALCA, SCT
45spondyloepimetaphyseal dysplasia10.2
46periodic paralyses10.2CALCA, FGF23
47crouzon syndrome with acanthosis nigricans10.2FGFR3, PTH1R
48bone deterioration disease10.2CALCA, FGF23, PTH
49leukodystrophy10.2CALCA, FGF23, PTH
50ferguson-smith tumor10.2PTHLH, SCT

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

HPO human phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

(show all 44)
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 nephrocalcinosis HP:0000121
17 brachycephaly HP:0000248
18 hypertelorism HP:0000316
19 micrognathia HP:0000347
20 choanal stenosis HP:0000452
21 choanal atresia HP:0000453
22 proptosis HP:0000520
23 misalignment of teeth HP:0000692
24 short ribs HP:0000773
25 hypoparathyroidism HP:0000829
26 osteopenia HP:0000938
27 hypophosphatemia HP:0002148
28 hypercalciuria HP:0002150
29 waddling gait HP:0002515
30 thick skull base HP:0002737
31 pathologic fracture HP:0002756
32 metaphyseal cupping HP:0003021
33 short long bone HP:0003026
34 hypercalcemia HP:0003072
35 hyperphosphaturia HP:0003109
36 elevated alkaline phosphatase HP:0003155
37 hip contracture HP:0003273
38 severe short stature HP:0003510
39 clinodactyly of the 5th finger HP:0004209
40 prominent supraorbital arches in adult HP:0004676
41 metaphyseal chondrodysplasia HP:0005871
42 knee flexion contracture HP:0006380
43 bowing of the long bones HP:0006487
44 clubbing of fingers HP:0100759

UMLS symptoms related to Metaphyseal Chondrodysplasia, Murk Jansen Type:


waddling gait

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 Type25 23 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

34
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:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8COL2A1, FGFR3, HHIP, IHH, PTH, PTH1R
2MP:00053818.5COL2A1, FGF23, FGFR3, HHIP, IHH, PTH1R
3MP:00053918.1ATF2, COL2A1, FGFR3, HHIP, IHH, PTHLH
4MP:00053858.0ATF2, COL2A1, FGF23, IHH, PTH, PTHLH
5MP:00053677.4COL2A1, CRH, FGF23, FGFR3, PTHLH, SCTR
6MP:00107687.3ATF2, COL2A1, FGF23, FGFR3, HHIP, IHH
7MP:00036317.2ATF2, COL2A1, CRH, FGFR3, HHIP, IHH
8MP:00053887.2ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
9MP:00053877.0ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
10MP:00053906.8ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
11MP:00053786.5ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
12MP:00053716.5ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
13MP:00053765.8ATF2, COL2A1, 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:

68
id Symbol AA change Variation ID SNP ID
1PTH1Rp.His223ArgVAR_003582rs121434597
2PTH1Rp.Thr410ProVAR_003583rs121434598
3PTH1Rp.Ile458ArgVAR_016064rs121434600
4PTH1Rp.Thr410ArgVAR_038811rs121434602

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 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7HHIP, IHH, PTHLH
29.7FGF23, PTH, PTH1R
39.5CALCA, PTH, PTH1R
49.5COL2A1, PTH, VCAN
59.5IHH, PTH, PTH1R, PTHLH
69.4PTH1R, SCTR
78.8ATF2, COL2A1, FGF23, FGFR3
88.6COL2A1, FGFR3, IHH, PTH, PTH1R, PTHLH
97.4CALCA, CRH, PTH, PTH1R, PTHLH, SCT
10
Show member pathways
7.2CALCA, CRH, IHH, PTH, PTH1R, PTHLH
11
Show member pathways
7.2CALCA, CRH, IHH, PTH, PTH1R, PTHLH
12
Show member pathways
6.0CALCA, CRH, FGF23, FGFR3, HHIP, 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:00056157.2CALCA, COL2A1, CRH, FGF23, IHH, PTH
2extracellular regionGO:00055766.3CALCA, COL2A1, CRH, FGF23, FGFR3, HHIP

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:004605810.5PTH, PTHLH
2osteoblast developmentGO:000207610.5PTH1R, PTHLH
3bone resorptionGO:004545310.3PTH, PTH1R
4positive regulation of ossificationGO:004577810.3CALCA, PTH
5response to osmotic stressGO:000697010.2ATF2, TRPV4
6hormone-mediated apoptotic signaling pathwayGO:000862810.0CRH, PTH
7endochondral ossificationGO:00019589.8COL2A1, FGFR3
8positive regulation of cytosolic calcium ion concentrationGO:00072049.8CALCA, PTH1R, TRPV4
9response to painGO:00482659.7CALCA, CRH
10chondrocyte differentiationGO:00020629.7COL2A1, FGFR3, PTH1R
11cell-cell signalingGO:00072679.4FGFR3, IHH, PTH, PTHLH
12adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.3CALCA, PTH, PTH1R, PTHLH
13positive regulation of cAMP biosynthetic processGO:00308199.1CRH, PTH, PTHLH, SCT
14cellular calcium ion homeostasisGO:00068748.9CALCA, PTH, PTH1R, TRPV4
15skeletal system developmentGO:00015018.4COL2A1, 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:005142810.4PTH, PTHLH
2hormone activityGO:00051798.5CALCA, CRH, PTH, PTHLH, SCT

Sources for Metaphyseal Chondrodysplasia, Murk Jansen Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet