Jansen type metaphyseal chondrodysplasia

Also Known As:

Metaphyseal Chondrodysplasia, Jansen Type; Metaphyseal Chondrodysplasia, Murk Jansen Type; Metaphyseal chondrodysplasia Murk Jansen type; Murk Jansen type metaphyseal chondrodysplasia

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Jansen type metaphyseal chondrodysplasia: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Jansen type metaphyseal chondrodysplasia: 7

Related Diseases

1.	Hypercalcemia (Milk Alkali Syndrome)
2.	Dwarfism

Experts

1.	Amizuka, Norio: 1 article (04/2017)
2.	Farooq, Muhammad: 1 article (04/2017)
3.	Sekimoto, Tsuneo: 1 article (04/2017)
4.	Shimomura, Yutaka: 1 article (04/2017)
5.	Shimomura-Kuroki, Junko: 1 article (04/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jansen type metaphyseal chondrodysplasia:

1.	Type 1 Parathyroid Hormone Receptor (Parathyroid Hormone Receptor)IBA 04/07/1995 - "A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia." 12/01/1997 - "A point mutation of PTH/PTHrP receptor is identified in a patient with Jansen-type metaphyseal chondrodysplasia and constitutive, ligand independent activation is indicated in this mutant receptor." 08/01/1995 - "A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism which is associated with severe hypercalcemia despite normal or low levels of circulating PTH and PTHrP. " 08/01/1997 - "Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method." 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "
2.	Parathyroid Hormone-Related ProteinIBA 01/01/1997 - "A mutation of PTH/PTHrP receptor-1 causes Jansen-type metaphyseal chondrodysplasia. " 08/01/1995 - "A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism which is associated with severe hypercalcemia despite normal or low levels of circulating PTH and PTHrP. " 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "
3.	LigandsIBA 04/01/2017 - "Jansen type metaphyseal chondrodysplasia is caused by missense mutations in PTH1R, which are constitutively active even without the presence of the ligands. " 12/01/1997 - "A point mutation of PTH/PTHrP receptor is identified in a patient with Jansen-type metaphyseal chondrodysplasia and constitutive, ligand independent activation is indicated in this mutant receptor."
4.	Histidine (L-Histidine)FDA Link 03/06/1997 - "Point mutations of a histidine at the junction between the first intracellular loop and the second membrane-spanning domain and a threonine in the sixth membrane-spanning domain of the human PTH-receptor have been reported to be associated with constitutive activation of the PTH receptor in Jansen-type metaphyseal chondrodysplasia. " 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "
5.	Threonine (L-Threonine)FDA Link 03/06/1997 - "Point mutations of a histidine at the junction between the first intracellular loop and the second membrane-spanning domain and a threonine in the sixth membrane-spanning domain of the human PTH-receptor have been reported to be associated with constitutive activation of the PTH receptor in Jansen-type metaphyseal chondrodysplasia. "
6.	Messenger RNA (mRNA)IBA 08/01/1997 - "Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method."
7.	RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA 08/01/1997 - "Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method."
8.	Parathyroid Hormone (Parathormone)IBA 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "
9.	NucleotidesIBA 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "
10.	Arginine (L-Arginine)FDA Link 04/07/1995 - "A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. "