KEGG   DISEASE: MEDNIK syndrome
Entry
H02220                      Disease                                
Name
MEDNIK syndrome;
Erythrokeratodermia variabilis type 3
Description
MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene mutations, encoding the subunit of the AP-1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02220  MEDNIK syndrome
Pathway
hsa04142  Lysosome
Gene
AP1S1 [HSA:1174] [KO:K12394]
Other DBs
ICD-11: LD2H.Y
ICD-10: Q82.8
OMIM: 609313
Reference
PMID:19057675
  Authors
Montpetit A, Cote S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P
  Title
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
  Journal
PLoS Genet 4:e1000296 (2008)
DOI:10.1371/journal.pgen.1000296
Reference
PMID:23423674
  Authors
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
  Title
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
  Journal
Brain 136:872-81 (2013)
DOI:10.1093/brain/awt012
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