JMC
MCID: MTP026
MIFTS: 44

Metaphyseal Chondrodysplasia, Murk Jansen Type (JMC) malady

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

Aliases & Classifications for Metaphyseal Chondrodysplasia, Murk Jansen Type

Aliases & Descriptions for Metaphyseal Chondrodysplasia, Murk Jansen Type:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 54 13
Metaphyseal Chondrodysplasia, Jansen Type 54 24 56
Jansen Type Metaphyseal Chondrodysplasia 50 29 69
Murk Jansen Type Metaphyseal Chondrodysplasia 12 50
Jansen's Metaphyseal Chondrodysplasia 12 14
Jansen Metaphyseal Chondrodysplasia 12 66
Metaphyseal Chondrodysplasia Murk Jansen Type 50
Jansen Metaphyseal Dysostosis 12
Jansen Disease 12
Jmc 66

Characteristics:

Orphanet epidemiological data:

56
metaphyseal chondrodysplasia, jansen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
metaphyseal chondrodysplasia, murk jansen type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 156400
Disease Ontology 12 DOID:0080020
Orphanet 56 ORPHA33067
MESH via Orphanet 43 C537564
UMLS via Orphanet 70 C0265295
ICD10 via Orphanet 34 Q78.5
MedGen 40 C0265295

Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

OMIM : 54 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 toxicodendron dermatitis and malignant granular cell myoblastoma, and has symptoms including waddling gait, hypertelorism and osteopenia. An important gene associated with Metaphyseal Chondrodysplasia, Murk Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 A metaphyseal dysplasia that has material basis in mutation in PTH receptor which results_in short-limbed dwarfism.

UniProtKB/Swiss-Prot : 66 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

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 toxicodendron dermatitis 10.3 PTH PTHLH
2 malignant granular cell myoblastoma 10.3 PTH PTHLH
3 binocular vision disease 10.3 PTH1R PTHLH
4 progressive locomotor ataxia 10.3 FGF23 PTHLH
5 orbit lymphoma 10.2 FGF23 PTH
6 obesity, severe bmiq9 10.2 PTH PTH1R PTHLH
7 intracranial thrombosis 10.2 PTH PTH1R PTHLH
8 weaver johnson syndrome 10.2 COL2A1 VCAN
9 branchiootorenal syndrome 10.2 PTH PTH1R PTHLH
10 macrosomia with microphthalmia, lethal 10.2 IHH PTH1R PTHLH
11 echinococcosis 10.2 FGF23 TRPV4
12 neuropathy, ataxia, and retinitis pigmentosa 10.2 IHH PTH1R
13 stickler syndrome 10.2 CALCA PTH
14 opthalmoplegia mental retardation lingua scrotalis 10.2 FGF23 PTH PTHLH
15 pterygium, antecubital 10.2 COL2A1 PTH1R PTHLH
16 metatropic dysplasia 10.2 COL2A1 TRPV4
17 mixed germ cell cancer 10.2 PTH PTHLH
18 adult ependymoblastoma 10.2 CALCA PTH
19 13q12.3 microdeletion syndrome 10.1 FGFR3 PTH1R PTHLH
20 muscular dystrophy-dystroglycanopathy 10.1 COL2A1 IHH PTHLH
21 hypophosphatasia, adult 10.1 CALCA PTH
22 ovarian endometrioid cystadenoma 10.1 CALCA PTH PTHLH
23 eiken syndrome 10.1 HHIP IHH PTH PTH1R
24 spondyloepimetaphyseal dysplasia 10.1
25 maroteaux stanescu cousin syndrome 10.1 CALCA FGF23 PTHLH
26 melanocytic nevus syndrome, congenital, somatic 10.1 FGF23 FGFR3
27 parathyroid gland disease 10.1 FGF23 PTH PTH1R PTHLH
28 atrial heart septal defect 10.1 CALCA PTH
29 pes anserinus tendinitis or bursitis 10.1 CALCA FGF23 PTH
30 tinea unguium 10.1 CALCA FGF23 PTH
31 ischemic bone disease 10.1 CALCA FGF23 PTH
32 mesenchymal cell neoplasm 10.1 CALCA PTH
33 waardenburg syndrome, type 4b 10.1 CALCA PTH PTH1R PTHLH
34 neuropathy, distal hereditary motor, type iia 10.1 COL2A1 FGFR3 IHH
35 sp7-related osteogenesis imperfecta 10.0 COL2A1 FGFR3 TRPV4
36 hypotrichosis 8 10.0 PTH PTH1R PTHLH
37 opioid abuse 10.0 CALCA FGF23 PTH PTHLH
38 pre-eclampsia 10.0 CALCA FGF23 PTH PTHLH
39 indian tick typhus 10.0 CALCA FGF23 PTH PTHLH
40 subserous uterine fibroid 10.0 CALCA FGF23 PTH PTHLH
41 calcinosis 10.0 CRH FGF23 PTH
42 hypogonadism cardiomyopathy 10.0 CALCA CRH PTHLH
43 vulvovaginitis 10.0 COL2A1 FGFR3 PTH1R PTHLH
44 ureter cancer 10.0 COL2A1 VCAN
45 carnitine deficiency, systemic primary 9.9 CALCA FGF23 PTH PTH1R PTHLH
46 slti salem syndrome 9.9 COL2A1 FGFR3 PTH1R PTHLH TRPV4
47 parathyroid carcinoma 9.8 CALCA FGF23 PTH PTH1R PTHLH SCT
48 toenail dystrophy, isolated 8.2 ATF2 CALCA COL2A1 CRH FGF23 FGFR3

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

Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Human phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 hypertelorism 32 HP:0000316
3 osteopenia 32 HP:0000938
4 hearing impairment 32 HP:0000365
5 bowing of the long bones 32 HP:0006487
6 hypophosphatemia 32 HP:0002148
7 brachycephaly 32 HP:0000248
8 micrognathia 32 HP:0000347
9 short long bone 32 HP:0003026
10 pathologic fracture 32 HP:0002756
11 hypoparathyroidism 32 HP:0000829
12 hypercalciuria 32 HP:0002150
13 metaphyseal chondrodysplasia 32 HP:0005871
14 clinodactyly of the 5th finger 32 HP:0004209
15 choanal atresia 32 HP:0000453
16 nephrocalcinosis 32 HP:0000121
17 hypercalcemia 32 HP:0003072
18 severe short stature 32 HP:0003510
19 proptosis 32 HP:0000520
20 hip contracture 32 HP:0003273
21 choanal stenosis 32 HP:0000452
22 misalignment of teeth 32 HP:0000692
23 elevated alkaline phosphatase 32 HP:0003155
24 knee flexion contracture 32 HP:0006380
25 clubbing of fingers 32 HP:0100759
26 short ribs 32 HP:0000773
27 hyperphosphaturia 32 HP:0003109
28 metaphyseal cupping 32 HP:0003021
29 thick skull base 32 HP:0002737
30 prominent supraorbital arches in adult 32 HP:0004676

UMLS symptoms related to Metaphyseal Chondrodysplasia, Murk Jansen Type:


waddling gait

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

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 COL2A1 CRH FGF23 FGFR3 HHIP IHH
2 homeostasis/metabolism MP:0005376 10.2 ATF2 COL2A1 CRH FGF23 FGFR3 PTH
3 cardiovascular system MP:0005385 10.13 ATF2 COL2A1 FGF23 IHH PTH PTHLH
4 limbs/digits/tail MP:0005371 10.1 CRH FGF23 FGFR3 IHH PTH PTH1R
5 immune system MP:0005387 10.09 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
6 mortality/aging MP:0010768 10.07 ATF2 COL2A1 FGF23 FGFR3 HHIP PTHLH
7 craniofacial MP:0005382 10.05 COL2A1 FGFR3 HHIP IHH PTH PTH1R
8 digestive/alimentary MP:0005381 10.04 COL2A1 FGF23 FGFR3 HHIP IHH PTH1R
9 nervous system MP:0003631 10.02 FGFR3 HHIP IHH PTHLH SCTR TRPV4
10 respiratory system MP:0005388 9.85 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
11 renal/urinary system MP:0005367 9.8 COL2A1 CRH FGF23 FGFR3 PTHLH SCTR
12 skeleton MP:0005390 9.65 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
13 vision/eye MP:0005391 9.17 HHIP IHH PTHLH TRPV4 ATF2 COL2A1

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

Genetic Tests for Metaphyseal Chondrodysplasia, Murk Jansen Type

Genetic tests related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

id Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Jansen Type 29 24 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

39
Bone

Publications for Metaphyseal Chondrodysplasia, Murk Jansen Type

Variations for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

66
id Symbol AA change Variation ID SNP ID
1 PTH1R p.His223Arg VAR_003582 rs121434597
2 PTH1R p.Thr410Pro VAR_003583 rs121434598
3 PTH1R p.Ile458Arg VAR_016064 rs121434600
4 PTH1R p.Thr410Arg VAR_038811 rs121434602

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Murk Jansen Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PTH1R NM_000316.2(PTH1R): c.668A> G (p.His223Arg) single nucleotide variant Pathogenic rs121434597 GRCh37 Chromosome 3, 46940181: 46940181
2 PTH1R NM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro) single nucleotide variant Pathogenic rs121434598 GRCh37 Chromosome 3, 46944032: 46944032
3 PTH1R NM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg) single nucleotide variant Pathogenic rs121434600 GRCh37 Chromosome 3, 46944258: 46944258
4 PTH1R NM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg) single nucleotide variant Pathogenic rs121434602 GRCh37 Chromosome 3, 46944033: 46944033

Expression for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

Pathways for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 CALCA CRH FGF23 FGFR3 HHIP IHH
2
Show member pathways
13.3 CALCA CRH IHH PTH PTH1R PTHLH
3 12.33 ATF2 COL2A1 FGF23 FGFR3
4 11.86 CALCA CRH PTH PTH1R PTHLH SCT
5 11.64 COL2A1 PTH VCAN
6
Show member pathways
11.62 CALCA CRH IHH PTH PTH1R PTHLH
7 11.25 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
8 11.23 CALCA PTH PTH1R
9 11.15 IHH PTH PTH1R PTHLH
10
Show member pathways
11.02 HHIP IHH PTHLH
11 10.89 PTH1R SCTR
12 10.64 FGF23 PTH PTH1R

GO Terms for Metaphyseal Chondrodysplasia, Murk Jansen Type

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 CALCA COL2A1 CRH FGF23 IHH PTH
2 extracellular region GO:0005576 9.36 CALCA COL2A1 CRH FGF23 FGFR3 HHIP

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.77 CALCA FGFR3 IHH PTH PTHLH
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.76 CALCA PTH1R TRPV4
3 chondrocyte differentiation GO:0002062 9.61 COL2A1 FGFR3 PTH1R
4 endochondral ossification GO:0001958 9.59 COL2A1 FGFR3
5 response to pain GO:0048265 9.58 CALCA CRH
6 response to osmotic stress GO:0006970 9.57 ATF2 TRPV4
7 osteoblast development GO:0002076 9.56 PTH1R PTHLH
8 cellular calcium ion homeostasis GO:0006874 9.56 CALCA PTH PTH1R TRPV4
9 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTH PTHLH
10 positive regulation of ossification GO:0045778 9.54 CALCA PTH
11 chondrocyte proliferation GO:0035988 9.52 FGFR3 IHH
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.51 PTH PTH1R
13 bone resorption GO:0045453 9.5 IHH PTH PTH1R
14 proteoglycan metabolic process GO:0006029 9.49 COL2A1 IHH
15 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.48 COL2A1 TRPV4
16 hormone-mediated apoptotic signaling pathway GO:0008628 9.46 CRH PTH
17 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.46 CALCA PTH PTH1R PTHLH
18 cAMP metabolic process GO:0046058 9.4 PTH PTHLH
19 positive regulation of cAMP biosynthetic process GO:0030819 9.35 CALCA CRH PTH PTHLH SCT
20 skeletal system development GO:0001501 9.17 COL2A1 FGFR3 IHH PTH PTH1R PTHLH

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.02 CALCA CRH PTH PTHLH SCT
2 peptide hormone receptor binding GO:0051428 8.96 PTH PTHLH

Sources for Metaphyseal Chondrodysplasia, Murk Jansen Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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