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Systemic Hyalinosis

Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. It is comprised of two allelic disorders: infantile systemic hyalinosis and juvenile hyaline fibromatosis. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
Also Known As:
Hyalinosis, Systemic; Fibromatosis Hyalinica Multiplex Juvenilis; Fibromatosis Juvenile Hyaline; Hyaline Fibromatosis Juvenile; Hyaline Fibromatosis Syndrome; Infantile Systemic Hyalinosis; Juvenile Hyaline Fibromatosis; Fibromatosis Syndrome, Hyaline; Fibromatosis Syndromes, Hyaline; Fibromatosis, Juvenile Hyaline; Hyaline Fibromatosis Syndromes; Hyaline Fibromatosis, Juvenile; Hyalinoses, Infantile Systemic; Hyalinoses, Systemic; Hyalinosis, Infantile Systemic; Infantile Systemic Hyalinoses; Juvenile Hyaline Fibromatoses; Syndrome, Hyaline Fibromatosis; Syndromes, Hyaline Fibromatosis; Systemic Hyalinoses; Systemic Hyalinoses, Infantile; Systemic Hyalinosis, Infantile
Networked: 22 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Systemic Hyalinosis
2. Fibroma (Fibromatosis)
3. Wounds and Injuries (Trauma)
4. Sphingolipidoses (Sphingolipidosis)
5. Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)

Experts

1. Rokicki, Dariusz: 2 articles (10/2015 - 04/2011)
2. Deuquet, Julie: 2 articles (01/2015 - 04/2011)
3. Martignetti, John A: 2 articles (04/2011 - 11/2006)
4. Ramirez, Maria Celeste M: 2 articles (04/2011 - 11/2006)
5. Dionyssopoulos, Alexander: 2 articles (02/2011 - 10/2009)
6. Karakiulakis, George: 2 articles (02/2011 - 10/2009)
7. Tzellos, Thrasivoulos G: 2 articles (02/2011 - 10/2009)
8. Papakonstantinou, Eleni: 2 articles (02/2011 - 10/2009)
9. Krasuska-Sławińska, Ewa: 1 article (10/2015)
10. Koeber, Bogumiła: 1 article (10/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Systemic Hyalinosis:
1. anthrax toxin receptorsIBA
2. CollagenIBA
3. Proteasome Endopeptidase Complex (Proteasome)IBA
4. Matrix MetalloproteinasesIBA
5. Complementary DNA (cDNA)IBA
6. Tuberculin (PPD)IBA
7. Succinylcholine (Suxamethonium Chloride)FDA LinkGeneric
8. Proteoglycans (Proteoglycan)IBA
9. Proteins (Proteins, Gene)IBA
10. Membrane Proteins (Integral Membrane Proteins)IBA