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GENATLAS PHENOTYPE

last update : 20-08-2015

Symbol	CEDNIK
Location	22q11.2
Name	CEDNIK syndrome
Corresponding gene	SNAP29
Main clinical features	cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, progressive microcephaly and facial dysmorphism, palmoplantar keratoderma and ichthyosis progressive worsening during the 2nd year of life, psychomotor retardation with peripheral nerve conduction demonstrating low-amplitude responses, at muscle biopsies neurogenic atrophy and normal activity of the mitochondrial respiratory chain complexes, hypoplastic optic disk, and mild sensorineural deafness MR image demonstrating cortical dysplasia and pachygyria with polymicrogyria
Genetic determination	autosomal recessive
Function/system disorder	neurology
	dermatology
Type	disease

Gene product

Name	synaptosomal-associated protein, 29kDa

Remark(s)

role of SNAP29 at key steps of membrane trafficking, predicting that signaling defects may contribute to the pathogenesis of cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) (PMID: 25551675))