MCID: MTP026
MIFTS: 47

Metaphyseal Chondrodysplasia, Murk Jansen Type

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

Aliases & Classifications for Metaphyseal Chondrodysplasia, Murk Jansen Type

MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Murk Jansen Type:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 54 13
Metaphyseal Chondrodysplasia, Jansen Type 24 56 29
Murk Jansen Type Metaphyseal Chondrodysplasia 12 50
Jansen Type Metaphyseal Chondrodysplasia 50 69
Jansen's Metaphyseal Chondrodysplasia 12 14
Jansen Metaphyseal Chondrodysplasia 12 71
Metaphyseal Chondrodysplasia Murk Jansen Type 50
Jansen Metaphyseal Dysostosis 12
Jansen Disease 12
Jmc 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait
majority of cases are sporadic


HPO:

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


Classifications:



Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

NIH Rare Diseases : 50 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. last updated: 6/15/2015

MalaCards based summary : Metaphyseal Chondrodysplasia, Murk Jansen Type, also known as metaphyseal chondrodysplasia, jansen type, is related to apocrine sweat gland neoplasm and binocular vision disease, and has symptoms including nephrocalcinosis, hypercalciuria and micrognathia. 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 eye, and related phenotypes are growth/size/body region and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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

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 top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 apocrine sweat gland neoplasm 10.8 PTH1R PTHLH
2 binocular vision disease 10.8 PTH1R PTHLH
3 photoallergic dermatitis 10.8 PTH PTHLH
4 pineal gland cancer 10.8 PTH PTHLH
5 teratocarcinoma 10.7 PTH PTHLH
6 transverse colon cancer 10.7 PTH1R PTHLH
7 brain angioma 10.7 PTH PTHLH
8 pinched nerve 10.7 FGF23 PTHLH
9 drug dependence 10.7 FGF23 PTH
10 echinococcosis 10.6 FGF23 TRPV4
11 familial caudal dysgenesis 10.6 COL2A1 TRPV4
12 obesity, severe bmiq9 10.6 PTH PTH1R PTHLH
13 impotence 10.6 PTH PTHLH
14 labyrinthitis 10.6 PTH PTH1R PTHLH
15 mutism 10.6 PTH PTH1R PTHLH
16 fryns macrocephaly 10.6 IHH PTH1R PTHLH
17 cri-du-chat syndrome 10.6 IHH PTH1R PTHLH
18 wandering spleen 10.6 COL2A1 VCAN
19 prediabetes syndrome 10.6 FGF23 PTH
20 hypochondrogenesis 10.6 CALCA PTH
21 mixed cell type adenoma of parathyroid 10.5 CALCA PTH
22 ophn1 syndrome 10.5 FGF23 PTH PTHLH
23 ureter cancer 10.5 COL2A1 VCAN
24 small cell cancer of the lung, somatic 10.5 PTH PTH1R PTHLH
25 glutaric aciduria iii 10.5 COL2A1 PTH1R PTHLH
26 xanthomatosis 10.5 CALCA PTH
27 smed strudwick type 10.5 COL2A1 TRPV4
28 joubert syndrome 9 10.5 FGF23 PTH
29 adult-onset still's disease 10.5 COL2A1 VCAN
30 hypophosphatasia, adult 10.5 CALCA PTH
31 legg-calve-perthes disease 10.4 COL2A1 TRPV4
32 rectosigmoid junction neoplasm 10.4 FGFR3 PTHLH
33 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 10.4 FGF23 FGFR3
34 osteopetrosis 10.4 COL2A1 IHH
35 anal canal squamous cell carcinoma 10.4 CALCA PTH PTHLH
36 parathyroid oncocytic adenoma 10.3 CALCA PTH PTHLH
37 angelman syndrome due to imprinting defect in 15q11-q13 10.3 FGFR3 PTH1R PTHLH
38 eiken syndrome 10.3 HHIP IHH PTH PTH1R
39 gastric antral vascular ectasia 10.3 FGF23 PTH
40 parathyroid gland disease 10.3 FGF23 PTH PTH1R PTHLH
41 pes anserinus tendinitis or bursitis 10.3 CALCA FGF23 PTH
42 tinea unguium 10.3 CALCA FGF23 PTH
43 mild pre-eclampsia 10.3 CALCA FGF23 PTHLH
44 bone deterioration disease 10.3 CALCA FGF23 PTH
45 iris mixed cell melanoma 10.2 CALCA SCT
46 bladder transitional cell papilloma 10.2 CALCA COL2A1
47 breast intracanalicular fibroadenoma 10.2 FGFR3 PTH1R
48 coffin-lowry syndrome 10.2 FGF23 PTH
49 chronic myelomonocytic leukemia 10.2 CALCA FGF23 PTH
50 waardenburg syndrome, type 4b 10.2 CALCA PTH PTH1R 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

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
nephrocalcinosis

Head And Neck- Face:
micrognathia
prominent supraorbital arches in adult
mild frontonasal hyperplasia in adult

Head And Neck- Nose:
choanal atresia
choanal stenosis

Skeletal- Hands:
clinodactyly
short, clubbed fingers

Head And Neck- Ears:
deafness

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

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

Skeletal- Pelvis:
flexion contracture of hips

Laboratory- Abnormalities:
hypercalciuria
hyperphosphaturia
hypercalcemia
hypophosphatemia
elevated alkaline phosphatase
more
Head And Neck- Eyes:
hypertelorism
prominent eyes

Chest- Ribs Sternum Clavicles And Scapulae:
short ribs

Head And Neck- Head:
brachycephaly

Skeletal:
generalized osteopenia
pathologic fracture

Skeletal- Skull:
thick skull base
mandibular cyst

Head And Neck- Teeth:
malposition of teeth


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

UMLS symptoms related to Metaphyseal Chondrodysplasia, Murk Jansen Type:


waddling gait

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

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 ATF2 COL2A1 CRH FGF23 FGFR3 HHIP
2 homeostasis/metabolism MP:0005376 10.2 CRH FGF23 FGFR3 PTH PTH1R PTHLH
3 cardiovascular system MP:0005385 10.14 ATF2 COL2A1 FGF23 IHH PTH PTHLH
4 limbs/digits/tail MP:0005371 10.1 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
5 immune system MP:0005387 10.09 HHIP PTH PTHLH SCTR ATF2 COL2A1
6 hematopoietic system MP:0005397 10.08 ATF2 CRH FGF23 FGFR3 HHIP PTH
7 craniofacial MP:0005382 10.07 COL2A1 FGFR3 HHIP IHH PTH PTH1R
8 mortality/aging MP:0010768 10.07 PTH1R PTHLH VCAN ATF2 COL2A1 FGF23
9 digestive/alimentary MP:0005381 10.05 COL2A1 FGF23 FGFR3 HHIP IHH PTH1R
10 nervous system MP:0003631 10.02 ATF2 COL2A1 CRH FGFR3 HHIP IHH
11 respiratory system MP:0005388 9.85 FGF23 FGFR3 HHIP IHH PTH1R PTHLH
12 renal/urinary system MP:0005367 9.8 COL2A1 CRH FGF23 FGFR3 PTHLH SCTR
13 skeleton MP:0005390 9.65 ATF2 COL2A1 CRH FGF23 FGFR3 IHH
14 vision/eye MP:0005391 9.17 COL2A1 FGFR3 HHIP IHH PTHLH TRPV4

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, Eye

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:

71
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 11)
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 11.86 CALCA CRH PTH PTH1R PTHLH SCT
4 11.64 COL2A1 PTH VCAN
5
Show member pathways
11.62 CALCA CRH IHH PTH PTH1R PTHLH
6 11.25 COL2A1 FGFR3 IHH PTH PTH1R PTHLH
7 11.23 CALCA PTH PTH1R
8 11.15 IHH PTH PTH1R PTHLH
9
Show member pathways
11.02 HHIP IHH PTHLH
10 10.87 PTH1R SCTR
11 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 23)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 CRH FGFR3 PTH1R PTHLH
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.77 CALCA PTH1R TRPV4
3 cell-cell signaling GO:0007267 9.77 CALCA FGFR3 IHH PTH PTHLH
4 endochondral ossification GO:0001958 9.61 COL2A1 FGFR3
5 chondrocyte differentiation GO:0002062 9.61 COL2A1 FGFR3 PTH1R
6 response to pain GO:0048265 9.59 CALCA CRH
7 response to osmotic stress GO:0006970 9.58 ATF2 TRPV4
8 negative regulation of chondrocyte differentiation GO:0032331 9.58 PTH PTHLH
9 osteoblast development GO:0002076 9.57 PTH1R PTHLH
10 positive regulation of ossification GO:0045778 9.56 CALCA PTH
11 cellular calcium ion homeostasis GO:0006874 9.56 CALCA PTH PTH1R TRPV4
12 ossification GO:0001503 9.55 COL2A1 PTH1R
13 chondrocyte proliferation GO:0035988 9.54 FGFR3 IHH
14 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.51 PTH PTH1R
15 bone resorption GO:0045453 9.5 IHH PTH PTH1R
16 proteoglycan metabolic process GO:0006029 9.49 COL2A1 IHH
17 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.48 COL2A1 TRPV4
18 hormone-mediated apoptotic signaling pathway GO:0008628 9.46 CRH PTH
19 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.46 CALCA PTH PTH1R PTHLH
20 cAMP metabolic process GO:0046058 9.4 PTH PTHLH
21 positive regulation of cAMP biosynthetic process GO:0030819 9.35 CALCA CRH PTH PTHLH SCT
22 vasculature development GO:0001944 9.3 CALCA
23 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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