Mednik Syndrome (MEDNIK)

Alias:

Erythrokeratodermia Variabilis 3

Impaired Intellectual Development, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Erythrokeratodermia Variabilis, Kamouraska Type

Mednik

Ekv3

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Erythrokeratodermia Variabilis Kamouraska Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mednik Syndrome, also known as erythrokeratodermia variabilis 3, is related to disorder of copper metabolism and cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, and has symptoms including diarrhea An important gene associated with Mednik Syndrome is AP1S1 (Adaptor Related Protein Complex 1 Subunit Sigma 1), and among its related pathways/superpathways are Innate Immune System and Vesicle-mediated transport. Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and ichthyosis

Related ID：

MALACARDS：MDN005

OMIM：609313

MESH：D007057