MEDNIK syndrome

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).



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 30244301
 MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F, Bisgin A, Ylmaz M.
Metab Brain Dis. 2018;33(6):2065-2068.
Intellectual disability
AP1S1
c|DUP|364|G| p|FS|D|122|G|18;RS#:767358930
Adaptor Protein Complex 1 Adaptor Protein Complex sigma Subunits Child Copper-Transporting ATPases Females Homo sapiens Intellectual Disability Syndrome
1
(4.0%)		 23423674
 MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C.
Brain. 2013;136(Pt 3):872-81.
Intrahepatic cholestasis
AP1S1 ATP7A
Adaptor Protein Complex 1 Adaptor Protein Complex sigma Subunits Base Sequence DNA Mutational Analysis Females Fibroblasts Homo sapiens Metal Metabolism, Inborn Errors Microscopy, Confocal Molecular Sequence Data Real-Time Polymerase Chain Reaction Transfection Western Blotting
1
(4.0%)		 21931015
 Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.
Puri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA.
Arch Dermatol. 2012;148(1):73-8.
Seizure
ARSH
Child, Preschool Hair Homo sapiens Ichthyosis, X-Linked Male Malformations of Cortical Development Microscopy, Polarization
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000962 Hyperkeratosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002242 Abnormal intestine morphology Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0009830 Peripheral neuropathy Very frequent (99-80%)
HP:0001406 Intrahepatic cholestasis Frequent (79-30%)
HP:0010837 Decreased serum ceruloplasmin Frequent (79-30%)
HP:0011967 Decreased circulating copper concentration Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001249 Intellectual disability 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
AP1S1 adaptor related protein complex 1 subunit sigma 1 1174