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type 1 Pena Shokeir syndrome

A clinically and genetically heterogeneous constellation of congenital abnormalities that include fetal akinesia, intrauterine growth retardation, arthrogryposis, lung hypoplasia, CLEFT PALATE; and CRYPTORCHIDISM. It is associated with mutations in the DOK7, MUSK, and RAPSN genes. OMIM: 208150
Also Known As:
Pena Shokeir syndrome, type 1; Arthrogryposis multiplex congenita pulmonary hypoplasia; Arthrogryposis multiplex congenita with pulmonary hypoplasia; Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings; Fetal akinesia deformation sequence; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir Syndrome, Type I
Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Osteogenesis Imperfecta (Lobstein Disease)
2. Orofaciodigital Syndromes (Orofaciodigital Syndrome)
3. Inborn Genetic Diseases (Disease, Hereditary)
4. Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
5. Thanatophoric Dysplasia (Dwarfism, Thanatophoric)

Experts

1. Lakeman, Phillis: 2 articles (11/2021 - 03/2015)
2. Waisfisz, Quinten: 2 articles (11/2021 - 09/2015)
3. Weiss, Marjan M: 2 articles (11/2021 - 09/2015)
4. Hoffmann, Katrin: 2 articles (12/2018 - 02/2008)
5. Laing, Nigel G: 2 articles (12/2018 - 06/2017)
6. Ravenscroft, Gianina: 2 articles (12/2018 - 06/2017)
7. Mathijssen, Inge B: 2 articles (09/2015 - 03/2015)
8. Meijers-Heijboer, Hanne: 2 articles (09/2015 - 03/2015)
9. Fryns, Jean-Pierre: 2 articles (01/2012 - 11/2002)
10. Burchell, George L: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1 Pena Shokeir syndrome:
1. Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
2. muskIBA
3. Cholinergic ReceptorsIBA
4. Nuclear Pore Complex Proteins (Nucleoporins)IBA
5. Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA
6. TeratogensIBA
7. SilverIBA
8. Nicotinamide-Nucleotide AdenylyltransferaseIBA
9. FibrinIBA
10. type 1 Rhizomelic chondrodysplasia punctataIBA