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MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
ORPHA:171851Classification level: Disorder
- Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: -
- OMIM: 609313
- UMLS: C1836330
- MeSH: -
- GARD: -
- MedDRA: -
The syndrome has been described in four families descending from limited number of ancestors in Quebec.
The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex.
Transmission is autosomal recessive.