MCID: MTP026
MIFTS: 45

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Metaphyseal Chondrodysplasia, Murk Jansen Type:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 52 12
Metaphyseal Chondrodysplasia, Jansen Type 52 24 54
Jansen Type Metaphyseal Chondrodysplasia 48 27 68
Murk Jansen Type Metaphyseal Chondrodysplasia 11 48
Jansen's Metaphyseal Chondrodysplasia 11 13
 
Jansen Metaphyseal Chondrodysplasia 11 70
Metaphyseal Chondrodysplasia Murk Jansen Type 48
Jansen Metaphyseal Dysostosis 11
Jansen Disease 11
Jmc 70

Characteristics:

Orphanet epidemiological data:

54
metaphyseal chondrodysplasia, jansen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
metaphyseal chondrodysplasia, murk jansen type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 156400
Disease Ontology11 DOID:0080020
Orphanet54 ORPHA33067
MESH via Orphanet40 C537564
UMLS via Orphanet69 C0265295
ICD10 via Orphanet31 Q78.5
MedGen37 C0265295

Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

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OMIM:52 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:70 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 67)
idRelated DiseaseScoreTop Affiliating Genes
1adenomyoma10.6PTH1R, PTHLH
2cranial nerve palsy10.6PTH, PTHLH
3adult pineal parenchymal tumor10.6PTH, PTHLH
4acidophil adenoma10.6PTH, PTHLH
5substance dependence10.5FGF23, PTH
6chronic rheumatic pericarditis10.5PTH, PTHLH
7gestational diabetes10.5FGF23, PTH
8testicular microlithiasis10.5FGF23, PTH
9obesity, severe bmiq910.5PTH, PTH1R, PTHLH
10hypochondrogenesis10.5CALCA, PTH
11echolalia10.5PTH, PTH1R, PTHLH
12fryns macrocephaly10.4IHH, PTH1R, PTHLH
13neuropathy, ataxia, and retinitis pigmentosa10.4IHH, PTH1R, PTHLH
14familial erythema nodosum10.4COL2A1, VCAN
15parathyroid transitional clear cell adenoma10.4CALCA, PTH
16sensory peripheral neuropathy10.4FGF23, PTH
17ureteric orifice cancer10.4COL2A1, VCAN
18polyradiculopathy10.4CALCA, PTH
19retinal dystrophy in systemic or cerebroretinal lipidoses10.4COL2A1, VCAN
20onychotrichodysplasia and neutropenia10.4FGF23, PTH, PTHLH
21smed strudwick type10.4COL2A1, TRPV4
22small cell cancer of the lung, somatic10.4PTH, PTH1R, PTHLH
23dyscalculia10.4CALCA, PTH
24ptosis, strabismus, and ectopic pupils10.4COL2A1, PTH1R, PTHLH
25t cell deficiency10.4FGF23, PTH, PTHLH
26malignant pleural solitary fibrous tumor10.4COL2A1, TRPV4
27cystic echinococcosis10.4FGF23, PTH, TRPV4
28acromesomelic dysplasia10.3COL2A1, TRPV4
29contact dermatitis10.3FGFR3, PTHLH
30epidermal nevus, somatic10.3FGF23, FGFR3
31impotence10.3CALCA, PTH, PTH1R
32acquired hyperkeratosis10.3CALCA, PTH, PTH1R
33papillary extrahepatic bile duct adenocarcinoma10.3CALCA, COL2A1
34anal buschke-lowenstein tumor10.3CALCA, PTH, PTHLH
35peripheral epithelioid sarcoma10.3CALCA, SCT
36neuropathy, distal hereditary motor, type iia10.3COL2A1, FGFR3
37osteopetrosis10.3COL2A1, IHH
38osteopetrosis and infantile neuroaxonal dystrophy10.2FGFR3, PTHLH
39chondrodysplasia, blomstrand type10.2HHIP, IHH, PTH, PTH1R
40mild phosphoribosylpyrophosphate synthetase superactivity10.2FGFR3, PTH1R, PTHLH
41capillariasis10.2CALCA, FGF23, PTH
42primrose syndrome10.2CALCA, SCT
43periodic paralyses10.2CALCA, FGF23
44crouzon syndrome with acanthosis nigricans10.2FGFR3, PTH1R
45bone deterioration disease10.2CALCA, FGF23, PTH
46leukodystrophy10.2CALCA, FGF23, PTH
47ferguson-smith tumor10.1PTHLH, SCT
48spondyloepimetaphyseal dysplasia10.1
49syphilitic myelopathy10.1COL2A1, FGFR3
50reflex epilepsy10.1FGFR3, PTHLH

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



Diseases related to metaphyseal chondrodysplasia, murk jansen type

Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Murk Jansen Type

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Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Human phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

 64 (show all 37)
id Description HPO Frequency HPO Source Accession
1 hypertelorism64 hallmark (90%) HP:0000316
2 micrognathia64 hallmark (90%) HP:0000347
3 proptosis64 hallmark (90%) HP:0000520
4 frontal bossing64 hallmark (90%) HP:0002007
5 micromelia64 hallmark (90%) HP:0002983
6 craniofacial hyperostosis64 hallmark (90%) HP:0004493
7 narrow chest64 typical (50%) HP:0000774
8 hypoparathyroidism64 typical (50%) HP:0000829
9 brachydactyly syndrome64 typical (50%) HP:0001156
10 hypercalcemia64 typical (50%) HP:0003072
11 clinodactyly of the 5th finger64 typical (50%) HP:0004209
12 increased bone mineral density64 typical (50%) HP:0011001
13 abnormality of calcium-phosphate metabolism64 typical (50%) HP:0100530
14 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
15 nephrocalcinosis64 HP:0000121
16 brachycephaly64 HP:0000248
17 choanal stenosis64 HP:0000452
18 choanal atresia64 HP:0000453
19 misalignment of teeth64 HP:0000692
20 short ribs64 HP:0000773
21 osteopenia64 HP:0000938
22 hypophosphatemia64 HP:0002148
23 hypercalciuria64 HP:0002150
24 waddling gait64 HP:0002515
25 thick skull base64 HP:0002737
26 pathologic fracture64 HP:0002756
27 metaphyseal cupping64 HP:0003021
28 short long bone64 HP:0003026
29 hyperphosphaturia64 HP:0003109
30 elevated alkaline phosphatase64 HP:0003155
31 hip contracture64 HP:0003273
32 severe short stature64 HP:0003510
33 prominent supraorbital arches in adult64 HP:0004676
34 metaphyseal chondrodysplasia64 HP:0005871
35 knee flexion contracture64 HP:0006380
36 bowing of the long bones64 HP:0006487
37 clubbing of fingers64 HP:0100759

UMLS symptoms related to Metaphyseal Chondrodysplasia, Murk Jansen Type:


waddling gait

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2COL2A1, FGFR3, HHIP, IHH, PTH, PTH1R
2MP:00053819.1COL2A1, FGF23, FGFR3, HHIP, IHH, PTH1R
3MP:00053858.7ATF2, COL2A1, FGF23, IHH, PTH, PTHLH
4MP:00053678.1COL2A1, CRH, FGF23, FGFR3, PTHLH, SCTR
5MP:00053918.0ATF2, COL2A1, FGFR3, HHIP, IHH, PTHLH
6MP:00107687.9ATF2, COL2A1, FGF23, FGFR3, HHIP, IHH
7MP:00036317.8ATF2, COL2A1, CRH, FGFR3, HHIP, IHH
8MP:00053717.6ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
9MP:00053887.6ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
10MP:00053907.5ATF2, COL2A1, CRH, FGF23, FGFR3, IHH
11MP:00053877.4ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
12MP:00053787.4ATF2, COL2A1, CRH, FGF23, FGFR3, HHIP
13MP:00053766.8ATF2, COL2A1, CRH, FGF23, FGFR3, PTH

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 Type27 24 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

36
Bone

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:

70
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)SNVPathogenicrs121434597GRCh37Chr 3, 46940181: 46940181
2PTH1RNM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro)SNVPathogenicrs121434598GRCh37Chr 3, 46944032: 46944032
3PTH1RNM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg)SNVPathogenicrs121434600GRCh37Chr 3, 46944258: 46944258
4PTH1RNM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg)SNVPathogenicrs121434602GRCh37Chr 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
78.7ATF2, 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 regionGO:00055767.4CALCA, COL2A1, CRH, FGF23, FGFR3, HHIP
2extracellular spaceGO:00056157.2CALCA, COL2A1, CRH, FGF23, IHH, PTH

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.7PTH, PTH1R
2cAMP metabolic processGO:004605810.7PTH, PTHLH
3osteoblast developmentGO:000207610.6PTH1R, PTHLH
4positive regulation of ossificationGO:004577810.3CALCA, PTH
5hormone-mediated apoptotic signaling pathwayGO:000862810.2CRH, PTH
6response to osmotic stressGO:000697010.2ATF2, TRPV4
7endochondral ossificationGO:000195810.2COL2A1, FGFR3
8positive regulation of cytosolic calcium ion concentrationGO:000720410.1CALCA, PTH1R, TRPV4
9chondrocyte differentiationGO:000206210.0COL2A1, FGFR3, PTH1R
10adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:000718910.0CALCA, PTH, PTH1R, PTHLH
11response to painGO:004826510.0CALCA, CRH
12cellular calcium ion homeostasisGO:00068749.9CALCA, PTH, PTH1R, TRPV4
13cell-cell signalingGO:00072679.9FGFR3, IHH, PTH, PTHLH
14positive regulation of cAMP biosynthetic processGO:00308199.6CRH, PTH, PTHLH, SCT
15skeletal system developmentGO:00015018.2COL2A1, 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:005142810.0PTH, PTHLH
2hormone activityGO:00051798.7CALCA, CRH, PTH, PTHLH, SCT

Sources for Metaphyseal Chondrodysplasia, Murk Jansen Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet