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Kozlowski type Spondylometaphyseal dysplasia

Also Known As:

Spondylometaphyseal dysplasia, Kozlowski type; SMD, Kozlowski Type

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Kozlowski type Spondylometaphyseal dysplasia: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Kozlowski type Spondylometaphyseal dysplasia: 4

Related Diseases

1.	Metatropic dwarfism
2.	Brachyolmia
3.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
4.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
5.	Joint Diseases (Joint Disease)

Experts

1.	Nilius, Bernd: 2 articles (11/2011 - 03/2009)
2.	Bertini, Enrico: 1 article (11/2011)
3.	Di Stefano, Cristina Maria: 1 article (11/2011)
4.	Dionisi-Vici, Carlo: 1 article (11/2011)
5.	Gillessen-Kaesbach, Gabriele: 1 article (11/2011)
6.	Lausch, Ekkehart: 1 article (11/2011)
7.	Stanzial, Franco: 1 article (11/2011)
8.	Stefanova, Irina: 1 article (11/2011)
9.	Superti-Furga, Andrea: 1 article (11/2011)
10.	Unger, Sheila: 1 article (11/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Kozlowski type Spondylometaphyseal dysplasia:

1.	Calcium Channels (Calcium Channel)IBA 11/01/2011 - "Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). "
2.	Ion Channels (Ion Channel)IBA 03/01/2009 - "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."
3.	CationsIBA 10/01/2010 - "Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). "
4.	CalciumIBA 03/01/2009 - "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."
5.	link proteinIBA 05/15/1994 - "Two link protein bands with abnormal electrophoretic migration were found in a sporadic case of spondylometaphyseal dysplasia, Kozlowski type. "