MCID: MTP034
MIFTS: 49

Metaphyseal Chondrodysplasia, Jansen Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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
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 clear cell chondrosarcoma 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. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and osteopenia

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.

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

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 66)
# Related Disease Score Top Affiliating Genes
1 clear cell chondrosarcoma 10.8 PTH1R PTHLH
2 extraskeletal chondroma 10.8 PTH PTHLH
3 sclerosing hepatic carcinoma 10.8 PTH PTHLH
4 tooth ankylosis 10.8 PTH1R PTHLH
5 invasive malignant thymoma 10.8 PTH PTHLH
6 hypocalciuric hypercalcemia, familial, type iii 10.8 PTH PTHLH
7 multiple enchondromatosis, maffucci type 10.8 IHH PTH1R
8 juxtacortical chondroma 10.8 PTH1R PTHLH
9 clear cell adenoma 10.8 PTH PTHLH
10 paraneoplastic syndromes 10.7 FGF23 PTHLH
11 hypervitaminosis d 10.7 FGF23 PTH
12 familial avascular necrosis of the femoral head 10.7 COL2A1 TRPV4
13 calciphylaxis 10.7 FGF23 PTH
14 jaw cancer 10.7 PTH PTHLH
15 impaired renal function disease 10.6 FGF23 PTH
16 pseudohypoparathyroidism, type ib 10.6 PTH PTH1R PTHLH
17 pseudohypoparathyroidism 10.6 PTH PTH1R PTHLH
18 enchondromatosis, multiple, ollier type 10.6 IHH PTH1R PTHLH
19 fibrogenesis imperfecta ossium 10.6 CALCA PTH
20 wagner syndrome 10.6 COL2A1 VCAN
21 pulmonary alveolar microlithiasis 10.5 FGF23 PTH
22 oncogenic osteomalacia 10.5 FGF23 PTH PTHLH
23 vitreous syneresis 10.5 COL2A1 VCAN
24 hypophosphatemic rickets, x-linked dominant 10.5 FGF23 PTH
25 blount's disease 10.5 FGF23 PTH1R TRPV4
26 osteitis fibrosa 10.5 CALCA PTH
27 vitreoretinal dystrophy 10.5 COL2A1 VCAN
28 pyle disease 10.5 COL2A1 PTH1R PTHLH
29 phosphorus metabolism disease 10.4 FGF23 PTH
30 chorioangioma 10.4 FGFR3 PTHLH
31 hypophosphatasia, adult 10.4 CALCA PTH
32 achondrogenesis, type ii 10.3 COL2A1 TRPV4
33 cloacogenic carcinoma 10.3 CALCA PTH PTHLH
34 parathyroid adenoma 10.3 CALCA PTH PTHLH
35 chondroblastoma 10.3 FGFR3 PTH1R PTHLH
36 chondromyxoid fibroma 10.3 FGFR3 PTH1R PTHLH
37 chondrodysplasia, blomstrand type 10.3 HHIP IHH PTH PTH1R
38 nevus, epidermal 10.3 FGF23 FGFR3
39 pancreatic cholera 10.3 CALCA SCT
40 hypoparathyroidism 10.3 FGF23 PTH PTH1R PTHLH
41 secondary hyperparathyroidism of renal origin 10.2 CALCA FGF23 PTH
42 osteomalacia 10.2 CALCA FGF23 PTHLH
43 renal osteodystrophy 10.2 CALCA FGF23 PTH
44 bone remodeling disease 10.2 CALCA FGF23 PTH
45 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.2
46 osteochondrosis 10.2 COL2A1 IHH
47 synovial chondromatosis 10.1 COL2A1 FGFR3
48 thanatophoric dysplasia, type i 10.1 FGFR3 PTH1R
49 chronic kidney failure 10.1 CALCA FGF23 PTH
50 brittle bone disorder 10.1 COL2A1 FGFR3 PTH1R

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 hypoparathyroidism 32 HP:0000829
11 hypercalciuria 32 HP:0002150
12 metaphyseal chondrodysplasia 32 HP:0005871
13 clinodactyly of the 5th finger 32 HP:0004209
14 choanal atresia 32 HP:0000453
15 nephrocalcinosis 32 HP:0000121
16 hypercalcemia 32 HP:0003072
17 severe short stature 32 HP:0003510
18 proptosis 32 HP:0000520
19 hip contracture 32 HP:0003273
20 choanal stenosis 32 HP:0000452
21 misalignment of teeth 32 HP:0000692
22 elevated alkaline phosphatase 32 HP:0003155
23 knee flexion contracture 32 HP:0006380
24 clubbing of fingers 32 HP:0100759
25 waddling gait 32 HP:0002515
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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
2 cardiovascular system MP:0005385 10.2 ATF2 COL2A1 FGF23 IHH PTH PTH1R
3 homeostasis/metabolism MP:0005376 10.2 COL2A1 CRH FGF23 FGFR3 PTH PTH1R
4 hematopoietic system MP:0005397 10.13 ATF2 CRH FGF23 FGFR3 HHIP PTH
5 immune system MP:0005387 10.13 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
6 limbs/digits/tail MP:0005371 10.1 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
7 craniofacial MP:0005382 10.08 PTHLH COL2A1 FGFR3 HHIP IHH PTH
8 digestive/alimentary MP:0005381 10.07 COL2A1 FGF23 FGFR3 HHIP IHH PTH1R
9 mortality/aging MP:0010768 10.07 FGFR3 HHIP IHH PTH PTH1R PTHLH
10 nervous system MP:0003631 10.06 SCTR TRPV4 VCAN ATF2 COL2A1 CRH
11 endocrine/exocrine gland MP:0005379 10.05 CRH FGF23 HHIP IHH PTH PTH1R
12 respiratory system MP:0005388 9.85 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
13 renal/urinary system MP:0005367 9.8 COL2A1 CRH FGF23 FGFR3 PTHLH SCTR
14 skeleton MP:0005390 9.65 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
15 vision/eye MP:0005391 9.23 ATF2 COL2A1 FGFR3 HHIP IHH PTH1R

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Jansen Type

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

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 11.68 ATF2 FGF23 PTH PTH1R PTHLH
4 11.66 CALCA CRH PTH PTH1R PTHLH SCT
5
Show member pathways
11.62 CALCA CRH IHH PTH PTH1R PTHLH
6 11.45 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
7 11.26 CALCA PTH PTH1R
8 11.21 IHH PTH PTH1R PTHLH
9
Show member pathways
11.1 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 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CRH FGFR3 IHH PTH1R PTHLH
2 regulation of signaling receptor activity GO:0010469 9.89 CALCA FGF23 PTH PTHLH SCT
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 CALCA PTH1R TRPV4
4 ossification GO:0001503 9.74 COL2A1 IHH PTH1R
5 cell-cell signaling GO:0007267 9.72 CALCA FGFR3 IHH PTH PTHLH
6 endochondral ossification GO:0001958 9.63 COL2A1 FGFR3
7 vasculature development GO:0001944 9.63 CALCA IHH
8 response to pain GO:0048265 9.62 CALCA CRH
9 response to osmotic stress GO:0006970 9.61 ATF2 TRPV4
10 osteoblast development GO:0002076 9.61 PTH1R PTHLH
11 chondrocyte differentiation GO:0002062 9.61 COL2A1 FGFR3 PTH1R
12 negative regulation of chondrocyte differentiation GO:0032331 9.6 PTH PTHLH
13 positive regulation of cAMP-mediated signaling GO:0043950 9.59 CRH SCT
14 positive regulation of ossification GO:0045778 9.58 CALCA PTH
15 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.58 PTH PTHLH
16 chondrocyte proliferation GO:0035988 9.56 FGFR3 IHH
17 cellular calcium ion homeostasis GO:0006874 9.56 CALCA PTH PTH1R TRPV4
18 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.54 PTH PTH1R
19 bone mineralization GO:0030282 9.54 FGFR3 PTH1R PTHLH
20 proteoglycan metabolic process GO:0006029 9.52 COL2A1 IHH
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.51 COL2A1 TRPV4
22 hormone-mediated apoptotic signaling pathway GO:0008628 9.48 CRH PTH
23 cAMP metabolic process GO:0046058 9.4 PTH PTHLH
24 bone resorption GO:0045453 9.33 IHH PTH PTH1R
25 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.26 CALCA PTH PTH1R PTHLH
26 skeletal system development GO:0001501 9.17 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
27 G-protein coupled receptor signaling pathway GO:0007186 10 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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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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