JMC
MCID: MTP034
MIFTS: 49

Metaphyseal Chondrodysplasia, Jansen Type (JMC)

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

Aliases & Classifications for Metaphyseal Chondrodysplasia, Jansen Type

MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Jansen Type:

Name: Metaphyseal Chondrodysplasia, Jansen Type 57 59 29 6
Metaphyseal Chondrodysplasia, Murk Jansen Type 57 13
Murk Jansen Type Metaphyseal Chondrodysplasia 12 53
Jansen Type Metaphyseal Chondrodysplasia 53 73
Jansen's Metaphyseal Chondrodysplasia 12 15
Jansen Metaphyseal Chondrodysplasia 12 75
Chondrodysplasia, Metaphyseal, Murk Jansen Type 40
Metaphyseal Chondrodysplasia Murk Jansen Type 53
Jansen Metaphyseal Dysostosis 12
Jansen Disease 12
Mcdj 57
Jmc 75

Characteristics:

Orphanet epidemiological data:

59
metaphyseal chondrodysplasia, jansen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
waddling gait
majority of cases are sporadic

Inheritance:
autosomal dominant


HPO:

32
metaphyseal chondrodysplasia, jansen type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Metaphyseal Chondrodysplasia, Jansen Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33067Disease definitionJansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related and extraskeletal chondroma, and has symptoms including waddling gait An important gene associated with Metaphyseal Chondrodysplasia, Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Angiotensin II and Angiotensin I (1-7) have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are hypertelorism and osteopenia

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

OMIM : 57 The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). (156400)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Jansen''s metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent... more...

Related Diseases for Metaphyseal Chondrodysplasia, Jansen Type

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3
2 extraskeletal chondroma 10.3 PTHLH PTH
3 sclerosing hepatic carcinoma 10.3 PTHLH PTH
4 clear cell chondrosarcoma 10.3 PTHLH PTH1R
5 tooth ankylosis 10.3 PTHLH PTH1R
6 invasive malignant thymoma 10.2 PTHLH PTH
7 paraneoplastic syndromes 10.2 PTHLH FGF23
8 hypocalciuric hypercalcemia, familial, type iii 10.2 PTHLH PTH
9 familial avascular necrosis of the femoral head 10.2 TRPV4 COL2A1
10 clear cell adenoma 10.2 PTHLH PTH
11 multiple enchondromatosis, maffucci type 10.2 PTH1R IHH
12 hypervitaminosis d 10.2 PTH FGF23
13 juxtacortical chondroma 10.2 PTHLH PTH1R
14 calciphylaxis 10.2 PTH FGF23
15 pseudohypoparathyroidism, type ib 10.2 PTHLH PTH1R PTH
16 fibrogenesis imperfecta ossium 10.2 PTH CALCA
17 pseudohypoparathyroidism 10.2 PTHLH PTH1R PTH
18 wagner syndrome 10.2 VCAN COL2A1
19 enchondromatosis, multiple, ollier type 10.2 PTHLH PTH1R IHH
20 oncogenic osteomalacia 10.2 PTHLH PTH FGF23
21 hypophosphatemic rickets, x-linked dominant 10.2 PTH FGF23
22 blount's disease 10.2 TRPV4 PTH1R FGF23
23 vitreous syneresis 10.2 VCAN COL2A1
24 osteitis fibrosa 10.1 PTH CALCA
25 cloacogenic carcinoma 10.1 PTHLH PTH CALCA
26 vitreoretinal dystrophy 10.1 VCAN COL2A1
27 chondromyxoid fibroma 10.1 PTHLH PTH1R FGFR3
28 impaired renal function disease 10.1 PTH FGF23
29 osteomalacia 10.1 FGF23 CALCA PTH
30 secondary hyperparathyroidism of renal origin 10.1 PTH FGF23 CALCA
31 parathyroid adenoma 10.1 PTHLH PTH CALCA
32 renal osteodystrophy 10.1 PTH FGF23 CALCA
33 chondrodysplasia, blomstrand type 10.1 PTH1R PTH IHH HHIP
34 hypocalcemia, autosomal dominant 1 10.1 PTH FGF23 CALCA
35 chorioangioma 10.1 PTHLH FGFR3
36 hypoparathyroidism 10.1 PTHLH PTH1R PTH FGF23
37 bone remodeling disease 10.1 PTH FGF23 CALCA
38 brittle bone disorder 10.1 PTH1R FGFR3 COL2A1
39 spondyloepiphyseal dysplasia congenita 10.1 IHH FGFR3 COL2A1
40 bone development disease 10.1 IHH FGFR3 COL2A1
41 hypercalcemia, infantile, 1 10.1 PTHLH PTH1R PTH CALCA
42 hypophosphatasia, adult 10.1 PTH CALCA
43 pancreatic cholera 10.1 SCT CALCA
44 hypoadrenalism 10.1 PTHLH CRH CALCA
45 hyperparathyroidism 10.1 PTHLH PTH FGF23 CALCA
46 parathyroid gland disease 10.1 PTHLH PTH FGF23 CALCA
47 mineral metabolism disease 10.1 PTHLH PTH FGF23 CALCA
48 chronic kidney failure 10.0 PTH1R PTH FGF23 CALCA
49 osteochondrodysplasia 10.0 PTHLH PTH1R FGFR3 COL2A1
50 skeletal dysplasias 10.0 TRPV4 PTH1R FGFR3 COL2A1

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



Diseases related to Metaphyseal Chondrodysplasia, Jansen Type

Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Jansen Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
prominent eyes

Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
hypercalcemia
elevated alkaline phosphatase
hyperphosphaturia
more
Head And Neck Face:
micrognathia
prominent supraorbital arches in adult
mild frontonasal hyperplasia in adult

Head And Neck Nose:
choanal atresia
choanal stenosis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Head And Neck Teeth:
malposition of teeth

Skeletal Skull:
thick skull base
mandibular cyst

Skeletal Limbs:
flexion contracture of knees
bowing of long bones, especially lower limb
markedly expanded cup-shaped metaphyses, infancy
short, mildly broad diaphyses
short tubular bones

Skeletal Hands:
clinodactyly
short, clubbed fingers

Head And Neck Head:
brachycephaly

Skeletal:
pathologic fracture
generalized osteopenia

Genitourinary Kidneys:
nephrocalcinosis

Head And Neck Ears:
deafness

Growth Height:
severe short stature, postnatal onset
average adult height 125cm

Skeletal Pelvis:
flexion contracture of hips


Clinical features from OMIM:

156400

Human phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 osteopenia 32 HP:0000938
3 hearing impairment 32 HP:0000365
4 bowing of the long bones 32 HP:0006487
5 hypophosphatemia 32 HP:0002148
6 brachycephaly 32 HP:0000248
7 micrognathia 32 HP:0000347
8 short long bone 32 HP:0003026
9 pathologic fracture 32 HP:0002756
10 waddling gait 32 HP:0002515
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 knee flexion contracture 32 HP:0006380
24 elevated alkaline phosphatase 32 HP:0003155
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 prominent supraorbital arches in adult 32 HP:0004676
30 thick skull base 32 HP:0002737

UMLS symptoms related to Metaphyseal Chondrodysplasia, Jansen Type:


waddling gait

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
2 homeostasis/metabolism MP:0005376 10.27 ATF2 COL2A1 CRH FGF23 FGFR3 PTH
3 behavior/neurological MP:0005386 10.23 ATF2 COL2A1 CRH FGFR3 PTH1R PTHLH
4 cardiovascular system MP:0005385 10.22 ATF2 COL2A1 FGF23 IHH PTH PTH1R
5 immune system MP:0005387 10.18 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
6 limbs/digits/tail MP:0005371 10.17 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
7 craniofacial MP:0005382 10.16 COL2A1 FGFR3 HHIP IHH PTH PTH1R
8 hematopoietic system MP:0005397 10.16 ATF2 CRH FGF23 FGFR3 HHIP PTH
9 endocrine/exocrine gland MP:0005379 10.14 CRH FGF23 HHIP IHH PTH PTH1R
10 mortality/aging MP:0010768 10.11 ATF2 COL2A1 FGF23 FGFR3 HHIP IHH
11 nervous system MP:0003631 10.1 ATF2 COL2A1 CRH FGFR3 HHIP IHH
12 digestive/alimentary MP:0005381 10.09 COL2A1 FGF23 FGFR3 HHIP IHH PTH1R
13 integument MP:0010771 10 ATF2 CRH FGF23 FGFR3 PTHLH SIK3
14 liver/biliary system MP:0005370 9.88 ATF2 COL2A1 CRH PTH1R PTHLH SIK3
15 renal/urinary system MP:0005367 9.86 COL2A1 CRH FGF23 FGFR3 PTHLH SCTR
16 respiratory system MP:0005388 9.85 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
17 skeleton MP:0005390 9.7 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
18 vision/eye MP:0005391 9.23 ATF2 COL2A1 FGFR3 HHIP IHH PTH1R

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Jansen Type

Drugs for Metaphyseal Chondrodysplasia, Jansen Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
2 Angiotensin I (1-7)
3 Vasodilator Agents
4 Antihypertensive Agents
5 Angiotensinogen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

Search NIH Clinical Center for Metaphyseal Chondrodysplasia, Jansen Type

Genetic Tests for Metaphyseal Chondrodysplasia, Jansen Type

Genetic tests related to Metaphyseal Chondrodysplasia, Jansen Type:

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

Anatomical Context for Metaphyseal Chondrodysplasia, Jansen Type

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

41
Bone, Eye, Kidney

Publications for Metaphyseal Chondrodysplasia, Jansen Type

Articles related to Metaphyseal Chondrodysplasia, Jansen Type:

# Title Authors Year
1
Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. ( 6974367 )
1981

Variations for Metaphyseal Chondrodysplasia, Jansen Type

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

75
# 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, Jansen Type:

6
# 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.668A> G (p.His223Arg) single nucleotide variant Pathogenic rs121434597 GRCh38 Chromosome 3, 46898691: 46898691
3 PTH1R NM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro) single nucleotide variant Pathogenic rs121434598 GRCh37 Chromosome 3, 46944032: 46944032
4 PTH1R NM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro) single nucleotide variant Pathogenic rs121434598 GRCh38 Chromosome 3, 46902542: 46902542
5 PTH1R NM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg) single nucleotide variant Pathogenic rs121434600 GRCh37 Chromosome 3, 46944258: 46944258
6 PTH1R NM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg) single nucleotide variant Pathogenic rs121434600 GRCh38 Chromosome 3, 46902768: 46902768
7 PTH1R NM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg) single nucleotide variant Pathogenic rs121434602 GRCh37 Chromosome 3, 46944033: 46944033
8 PTH1R NM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg) single nucleotide variant Pathogenic rs121434602 GRCh38 Chromosome 3, 46902543: 46902543

Expression for Metaphyseal Chondrodysplasia, Jansen Type

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

Pathways for Metaphyseal Chondrodysplasia, Jansen Type

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CALCA CRH FGF23 FGFR3 HHIP IHH
2
Show member pathways
13.33 CALCA CRH IHH PTH PTH1R PTHLH
3 11.86 CALCA CRH PTH PTH1R PTHLH SCT
4 11.68 ATF2 FGF23 PTH PTH1R PTHLH
5
Show member pathways
11.62 CALCA CRH IHH PTH PTH1R PTHLH
6 11.26 CALCA PTH PTH1R
7 11.25 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
8 11.21 IHH PTH PTH1R PTHLH
9
Show member pathways
11.06 HHIP IHH PTHLH
10 10.87 PTH1R SCTR
11 10.69 FGF23 PTH PTH1R

GO Terms for Metaphyseal Chondrodysplasia, Jansen Type

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

# 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, Jansen Type according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 CRH FGFR3 IHH PTH1R PTHLH
2 regulation of signaling receptor activity GO:0010469 9.91 CALCA FGF23 PTH PTHLH SCT
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 CALCA PTH1R TRPV4
4 ossification GO:0001503 9.75 COL2A1 IHH PTH1R
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.67 CALCA PTH PTH1R PTHLH
6 endochondral ossification GO:0001958 9.62 COL2A1 FGFR3
7 vasculature development GO:0001944 9.62 CALCA IHH
8 cellular calcium ion homeostasis GO:0006874 9.62 CALCA PTH PTH1R TRPV4
9 response to osmotic stress GO:0006970 9.61 ATF2 TRPV4
10 response to pain GO:0048265 9.61 CALCA CRH
11 chondrocyte differentiation GO:0002062 9.61 COL2A1 FGFR3 PTH1R
12 osteoblast development GO:0002076 9.6 PTH1R PTHLH
13 positive regulation of cAMP-mediated signaling GO:0043950 9.59 CRH SCT
14 negative regulation of chondrocyte differentiation GO:0032331 9.58 PTH PTHLH
15 chondrocyte proliferation GO:0035988 9.57 FGFR3 IHH
16 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.55 PTH PTH1R
17 cell-cell signaling GO:0007267 9.55 CALCA FGFR3 IHH PTH PTHLH
18 proteoglycan metabolic process GO:0006029 9.54 COL2A1 IHH
19 phosphate ion homeostasis GO:0055062 9.52 FGF23 PTH
20 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.49 COL2A1 TRPV4
21 hormone-mediated apoptotic signaling pathway GO:0008628 9.46 CRH PTH
22 bone resorption GO:0045453 9.43 IHH PTH PTH1R
23 cAMP metabolic process GO:0046058 9.4 PTH PTHLH
24 bone mineralization GO:0030282 9.26 FGFR3 PTH PTH1R PTHLH
25 skeletal system development GO:0001501 9.1 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
26 G protein-coupled receptor signaling pathway GO:0007186 10.02 CALCA CRH PTH PTH1R PTHLH SCT

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

# 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, Jansen Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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