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Hyaline Fibromatosis Syndrome

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. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
Also Known As:
Fibromatosis Hyalinica Multiplex Juvenilis; Fibromatosis Juvenile Hyaline; Fibromatosis, Juvenile Hyaline; Hyaline Fibromatosis Juvenile; Hyalinosis, Systemic Juvenile; Infantile Systemic Hyalinosis; Juvenile Hyaline Fibromatosis; Juvenile Hyalinosis; Murray Syndrome; Puretic Syndrome; Systemic Hyalinosis; Fibromatosis Syndrome, Hyaline; Fibromatosis Syndromes, Hyaline; Hyaline Fibromatosis Syndromes; Hyaline Fibromatosis, Juvenile; Hyalinoses, Infantile Systemic; Hyalinoses, Juvenile; Hyalinoses, Systemic; Hyalinoses, Systemic Juvenile; Hyalinosis, Infantile Systemic; Hyalinosis, Juvenile; Infantile Systemic Hyalinoses; Juvenile Hyaline Fibromatoses; Juvenile Hyalinoses; Juvenile Hyalinoses, Systemic; Juvenile Hyalinosis, Systemic; Puretic Syndromes; Syndrome, Hyaline Fibromatosis; Syndrome, Murray; Syndrome, Puretic; Syndromes, Hyaline Fibromatosis; Syndromes, Puretic; Systemic Hyalinoses; Systemic Hyalinoses, Infantile; Systemic Hyalinosis, Infantile; Systemic Juvenile Hyalinoses; Systemic Juvenile Hyalinosis; Hyalinosis, Systemic
Networked: 48 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Sepsis (Septicemia)
2. Hypercalcemia (Milk Alkali Syndrome)
3. Hyaline Fibromatosis Syndrome
4. Inborn Genetic Diseases (Disease, Hereditary)
5. Protein-Losing Enteropathies (Protein-Losing Enteropathy)

Experts

1. Superti-Furga, Andrea: 5 articles (01/2020 - 10/2003)
2. Martignetti, John A: 3 articles (01/2018 - 11/2006)
3. Deuquet, Julie: 3 articles (12/2017 - 04/2011)
4. Lausch, Ekkehart: 3 articles (12/2017 - 04/2011)
5. van der Goot, F Gisou: 3 articles (12/2017 - 07/2013)
6. Rokicki, Dariusz: 3 articles (10/2015 - 04/2011)
7. Scholl-Bürgi, Sabine: 2 articles (01/2020 - 12/2017)
8. Abrami, Laurence: 2 articles (12/2017 - 04/2011)
9. Salvi, Suzanne: 2 articles (07/2013 - 04/2011)
10. Ramirez, Maria Celeste M: 2 articles (04/2011 - 11/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyaline Fibromatosis Syndrome:
1. CollagenIBA
2. anthrax toxin receptorsIBA
3. Proteins (Proteins, Gene)FDA Link
4. Anesthetics (Anesthetic Agents)IBA
5. Membrane Proteins (Integral Membrane Proteins)IBA
6. GlycosaminoglycansIBA
7. Proteasome InhibitorsIBA
8. Collagen Type VIIBA
9. Matrix Metalloproteinases (MMPs)IBA
10. Initiator Codon (Start Codon)IBA

Therapies and Procedures

1. Therapeutics
2. Semiconductor Lasers
3. Operative Surgical Procedures
4. Colectomy