Details of Disease | DrugMAP

General Information of Disease (ID: DISRF06E)

Disease Name	MEDNIK syndrome
Synonyms	intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis 3; intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis, Kamouraska type; intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Definition	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).
Disease Hierarchy	DISXHPKM: Copper metabolism disorder DIS6SVEE: Syndromic disease DISQGG08: Erythrokeratoderma DISSCALK: Hereditary skin disorder DISRF06E: MEDNIK syndrome
Disease Identifiers	MONDO ID MONDO_0012251 MESH ID C563739 UMLS CUI C1836330 OMIM ID 609313 MedGen ID 322893 Orphanet ID 171851 SNOMED CT ID 722035007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP1B1	OTY0K84R	Supportive	Autosomal recessive	[1]
AP1S1	OTQ2H8DN	Definitive	Autosomal recessive	[2]
CCS	OTXHT3QO	Definitive	Genetic Variation	[3]
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References

1	Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Inborn errors of copper metabolism.Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9.