MCID: MTP026
MIFTS: 27

Metaphyseal Chondrodysplasia, Murk Jansen Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Metaphyseal Chondrodysplasia, Murk Jansen Type, Aliases & Descriptions:

Name: Metaphyseal Chondrodysplasia, Murk Jansen Type 45 10
Jansen Type Metaphyseal Chondrodysplasia 41 20 22 60
Metaphyseal Chondrodysplasia, Jansen Type 45 41 47
Murk Jansen Type Metaphyseal Chondrodysplasia 9 41
Metaphyseal Chondrodysplasia Murk Jansen Type 41
 
Jansen's Metaphyseal Chondrodysplasia 9
Jansen Metaphyseal Chondrodysplasia 9
Jansen Metaphyseal Dysostosis 9
Jansen Disease 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
metaphyseal chondrodysplasia, jansen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 156400
Disease Ontology9 DOID:0080020
Orphanet47 33067
MESH via Orphanet34 C537564
ICD10 via Orphanet26 Q78.5
UMLS via Orphanet61 C0265295

Summaries for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section


OMIM:45 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 jansen type metaphyseal chondrodysplasia, is related to chondrodysplasia and spondyloepimetaphyseal dysplasia, and has symptoms including hypertelorism, prominent supraorbital ridges and micrognathia. An important gene associated with Metaphyseal Chondrodysplasia, Murk Jansen Type is PTH1R (parathyroid hormone 1 receptor). Affiliated tissues include bone.

Disease Ontology:9 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia10.4
2spondyloepimetaphyseal dysplasia10.4

Symptoms for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Symptoms by clinical synopsis from OMIM:

156400

Clinical features from OMIM:

156400

Symptoms:

 47 (show all 20)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • frontal bossing/prominent forehead
  • hypertelorism
  • prominent supraorbital ridge
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • short limbs/micromelia/brachymelia
  • metaphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • hypoplastic mandibula/partial absence of the mandibula
  • narrow rib cage/thorax
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • hypoparathyroidy
  • osteosclerosis/osteopetrosis/bone condensation
  • enlarged diaphysis/diaphyses
  • phosphocalcic metabolism anomalies
  • hypercalcemia
  • sensorineural deafness/hearing loss

HPO human phenotypes related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

(show all 50)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 prominent supraorbital ridges hallmark (90%) HP:0000336
3 micrognathia hallmark (90%) HP:0000347
4 proptosis hallmark (90%) HP:0000520
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 limitation of joint mobility hallmark (90%) HP:0001376
7 frontal bossing hallmark (90%) HP:0002007
8 micromelia hallmark (90%) HP:0002983
9 short stature hallmark (90%) HP:0004322
10 craniofacial hyperostosis hallmark (90%) HP:0004493
11 micrognathia typical (50%) HP:0000347
12 narrow chest typical (50%) HP:0000774
13 hypoparathyroidism typical (50%) HP:0000829
14 brachydactyly syndrome typical (50%) HP:0001156
15 hypercalcemia typical (50%) HP:0003072
16 clinodactyly of the 5th finger typical (50%) HP:0004209
17 increased bone mineral density typical (50%) HP:0011001
18 abnormality of calcium-phosphate metabolism typical (50%) HP:0100530
19 sensorineural hearing impairment occasional (7.5%) HP:0000407
20 autosomal dominant inheritance HP:0000006
21 nephrocalcinosis HP:0000121
22 brachycephaly HP:0000248
23 hypertelorism HP:0000316
24 micrognathia HP:0000347
25 hearing impairment HP:0000365
26 choanal stenosis HP:0000452
27 choanal atresia HP:0000453
28 proptosis HP:0000520
29 misalignment of teeth HP:0000692
30 short ribs HP:0000773
31 hypoparathyroidism HP:0000829
32 osteopenia HP:0000938
33 hypophosphatemia HP:0002148
34 hypercalciuria HP:0002150
35 waddling gait HP:0002515
36 thick skull base HP:0002737
37 pathologic fracture HP:0002756
38 metaphyseal cupping HP:0003021
39 short long bones HP:0003026
40 hypercalcemia HP:0003072
41 hyperphosphaturia HP:0003109
42 elevated alkaline phosphatase HP:0003155
43 hip contracture HP:0003273
44 severe short stature HP:0003510
45 clinodactyly of the 5th finger HP:0004209
46 prominent supraorbital arches in adult HP:0004676
47 metaphyseal chondrodysplasia HP:0005871
48 knee flexion contracture HP:0006380
49 bowing of the long bones HP:0006487
50 clubbing of fingers HP:0100759

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Drug clinical trials:

Search ClinicalTrials for Metaphyseal Chondrodysplasia, Murk Jansen Type

Search NIH Clinical Center for Metaphyseal Chondrodysplasia, Murk Jansen Type

Genetic Tests for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Genetic tests related to Metaphyseal Chondrodysplasia, Murk Jansen Type:

id Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Jansen Type20 22 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

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

31
Bone

Animal Models for Metaphyseal Chondrodysplasia, Murk Jansen Type or affiliated genes

About this section

Publications for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Variations for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

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

62
id Symbol AA change Variation ID SNP ID
1PTH1Rp.His223ArgVAR_003582
2PTH1Rp.Thr410ProVAR_003583
3PTH1Rp.Ile458ArgVAR_016064
4PTH1Rp.Thr410ArgVAR_038811

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1PTH1RNM_000316.2(PTH1R): c.668A> G (p.His223Arg)single nucleotide variantPathogenicrs121434597GRCh37Chr 3, 46940181: 46940181
2PTH1RNM_000316.2(PTH1R): c.1228A> C (p.Thr410Pro)single nucleotide variantPathogenicrs121434598GRCh37Chr 3, 46944032: 46944032
3PTH1RNM_000316.2(PTH1R): c.1373T> G (p.Ile458Arg)single nucleotide variantPathogenicrs121434600GRCh37Chr 3, 46944258: 46944258
4PTH1RNM_000316.2(PTH1R): c.1229C> G (p.Thr410Arg)single nucleotide variantPathogenicrs121434602GRCh37Chr 3, 46944033: 46944033

Expression for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

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

Pathways for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Compounds for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

GO Terms for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section

Products for genes affiliated with Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metaphyseal Chondrodysplasia, Murk Jansen Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet