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Brachyolmia

Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Brachyolmia: 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Brachyolmia: 13

Related Diseases

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

Experts

1.	Cohn, Daniel H: 2 articles (06/2014 - 03/2009)
2.	Nilius, Bernd: 2 articles (11/2011 - 03/2009)
3.	Gurtunca, Nursen: 1 article (03/2022)
4.	Perez-Garcia, E Melissa: 1 article (03/2022)
5.	Whalen, Philip: 1 article (03/2022)
6.	Das, Rashmita: 1 article (10/2019)
7.	Goswami, Chandan: 1 article (10/2019)
8.	Alembik, Yves: 1 article (06/2015)
9.	Antequera, Reynaldo: 1 article (06/2015)
10.	Bailleul-Forestier, Isabelle: 1 article (06/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brachyolmia:

1.	Calcium Channels (Calcium Channel)IBA 03/01/2009 - "Similar to autosomal-dominant brachyolmia, the mutations altered basal calcium channel activity in vitro. " 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.	GlycosaminoglycansIBA 07/01/1997 - "Although the x-ray findings of this patient are consistent with both Types I and III, recessive inheritance and glycosaminoglycan anomalies point to Type I brachyolmia." 10/01/1992 - "Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG)"
3.	Latent TGF-beta Binding Proteins (Latent TGF beta Binding Protein)IBA 06/01/2015 - "Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta."
4.	Sulfates (Sulfates, Inorganic)IBA 06/01/1973 - "Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia)."
5.	Messenger RNA (mRNA)IBA 06/01/2014 - "We generated a mouse model of the TRPV4(V620I) mutation, and found significant skeletal deformities (e.g., shortening of tibiae and digits, similar to the human disease brachyolmia) and increases in Fst/TRPV4 mRNA levels (2.8-fold). "
6.	Proteins (Proteins, Gene)FDA Link 11/11/2022 - "The HEK293T whole-cell extract that was transfected with the Myc-tagged PCMV6-PAPSS2 of both the wild and mutant constructs were resolved by SDS-PAGE as well as by a Western blot, which confirmed that there are different PAPSS2 protein expression patterns when they were compared between the control and Brachyolmia patients. "
7.	Ligases (Synthetase)IBA 03/01/2022 - "Variants in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthetase 2) present with varying degrees of brachyolmia (short trunk, platyspondyly, mild long-bone abnormalities). "
8.	Ion Channels (Ion Channel)IBA 03/01/2009 - "The vertebrae exhibit platyspondyly and overfaced pedicles similar to autosomal-dominant brachyolmia, which can result from heterozygosity for activating mutations in the gene encoding TRPV4, a calcium-permeable ion channel. "
9.	Chondroitin Sulfates (Chondroitin Sulfate)IBA 06/01/1973 - "Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia)."
10.	ChondroitinIBA 10/01/1991 - "To our knowledge, this is the second case of brachyolmia with a possible defect in chondroitin sulphate-sulphotransferase."