Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Also Known As:

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ichthyosis (Xeroderma)

Experts

1.	Boeckmann, Lars: 1 article (05/2021)
2.	Edelkamp, Janin: 1 article (05/2021)
3.	Emmert, Steffen: 1 article (05/2021)
4.	Jung, Ole: 1 article (05/2021)
5.	Krohn, Saskia: 1 article (05/2021)
6.	Martens, Marie Christine: 1 article (05/2021)
7.	Murua Escobar, Hugo: 1 article (05/2021)
8.	Schäfer, Mirijam: 1 article (05/2021)
9.	Seebode, Christina: 1 article (05/2021)
10.	Stählke, Susanne: 1 article (05/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:

1.	Proteins (Proteins, Gene)FDA Link 02/01/2021 - "CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (SNAP29), which encodes a vesicular membrane fusion protein. " 05/18/2021 - "Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) lead to the rare autosomal recessive neurocutaneous cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. "
2.	SNARE Proteins (SNAREs)IBA 01/01/2019 - "A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development."