X-linked distal Arthrogryposis multiplex congenita

Also Known As:

Arthrogryposis multiplex congenita, distal, X-linked; AMC, distal, X-linked; Amcx1; Arthrogryposis, X-Linked, Type I; Smax2; Spinal Muscular Atrophy, Infantile X-Linked; Spinal Muscular Atrophy, X-Linked 2; Spinal Muscular Atrophy, X-Linked Lethal Infantile; Xlsma

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

Disease Context: Research Results

Related Diseases

1.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
2.	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
3.	VEXAS syndrome

Experts

1.	Forman, Eva B: 1 article (01/2020)
2.	Lynch, Bryan: 1 article (01/2020)
3.	Lynch, Sally Ann: 1 article (01/2020)
4.	O'Rourke, Declan: 1 article (01/2020)
5.	Shaughnessy, Niamh: 1 article (01/2020)
6.	Fang, Huan: 1 article (02/2017)
7.	Fu, Qing-Long: 1 article (02/2017)
8.	He, Jian-Zhou: 1 article (02/2017)
9.	Wang, Deng-Jun: 1 article (02/2017)
10.	Zhou, Dong-Mei: 1 article (02/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-linked distal Arthrogryposis multiplex congenita:

1.	UbiquitinIBA 08/30/2022 - "VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier activating enzyme 1 (UBA1) in Xp11.3. Germline pathogenic variants in UBA1 are associated with a distinct phenotype: a syndrome with severe neurologic features associated with loss of anterior horn cells and infantile death denominated X-Linked Spinal Muscular Atrophy 2 (SMAX2) (OMIM 301,830). " 01/01/2020 - "X-linked infantile spinal muscular atrophy (SMAX2), OMIM 301830, is a rare, severe form of spinal muscular atrophy, caused by variants in the Ubiquitin like modifier-activating enzyme 1 (UBA1) gene. " 05/01/2013 - "Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. "
2.	EnzymesIBA 08/30/2022 - "VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier activating enzyme 1 (UBA1) in Xp11.3. Germline pathogenic variants in UBA1 are associated with a distinct phenotype: a syndrome with severe neurologic features associated with loss of anterior horn cells and infantile death denominated X-Linked Spinal Muscular Atrophy 2 (SMAX2) (OMIM 301,830). " 01/01/2020 - "X-linked infantile spinal muscular atrophy (SMAX2), OMIM 301830, is a rare, severe form of spinal muscular atrophy, caused by variants in the Ubiquitin like modifier-activating enzyme 1 (UBA1) gene. "
3.	Proteasome Endopeptidase Complex (Proteasome)IBA 05/01/2013 - "Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. "
4.	Ubiquitin-Activating Enzymes (Ubiquitin-Activating Enzyme)IBA 05/01/2013 - "Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. "
5.	SandIBA 02/01/2017 - "The two-site kinetic retention model-fitted value of maximum solid-phase concentration (Smax2) for GONPs was higher for biofilm-coated sand than for cleaned sand, demonstrating that biofilms act as favorable sites for GONPs retention. "