Details of Disease | DrugMAP

General Information of Disease (ID: DIS8AB7V)

Disease Name	CEDNIK syndrome
Synonyms	cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; CEDNIK syndrome; cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome; cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Definition	CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS6O9JS: Diffuse palmoplantar keratoderma DIS8AB7V: CEDNIK syndrome
Disease Identifiers	MONDO ID MONDO_0012290 MESH ID C537943 UMLS CUI C1836033 OMIM ID 609528 MedGen ID 332113 Orphanet ID 66631 SNOMED CT ID 722385008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNAP29	OTT30ZON	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.