Wieacker syndrome

Also Known As:

Apraxia, oculomotor, with congenital contractures and muscle atrophy; Contractures of feet, muscle atrophy, and oculomotor apraxia; Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches; Mental retardation, X-linked, syndromic 4; Miles-Carpenter x-linked mental retardation syndrome; Wieacker Wolff syndrome; Wieacker-Wolff Syndrome

Networked: 4 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
2.	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

Experts

1.	Abdel-Salam, Ghada M H: 1 article (01/2022)
2.	Calame, Daniel G: 1 article (01/2022)
3.	Coban-Akdemir, Zeynep: 1 article (01/2022)
4.	Dawood, Moez: 1 article (01/2022)
5.	Du, Haowei: 1 article (01/2022)
6.	Fatih, Jawid M: 1 article (01/2022)
7.	Gibbs, Richard A: 1 article (01/2022)
8.	Hegazy, Ibrahim: 1 article (01/2022)
9.	Herman, Isabella: 1 article (01/2022)
10.	Jhangiani, Shalini N: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wieacker syndrome:

1.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2020 - "A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome." 01/01/2020 - "Female heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker-Wolff syndrome and our study provides a potential new target for the disease treatment." 01/01/2022 - "Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Female heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker-Wolff syndrome and our study provides a potential new target for the disease treatment." 01/01/2022 - "Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene."
3.	DNA (Deoxyribonucleic Acid)IBA 09/01/1987 - "Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq."
4.	muskIBA 01/01/2022 - "CAPN3, MUSK, and ZC4H2 are established disease genes linked to limb-girdle muscular dystrophy (OMIM# 253600), congenital myasthenia (OMIM# 616325), and Wieacker-Wolff syndrome (WWS; OMIM# 314580), respectively. "