KEGG   DISEASE: HELIX syndrome
Entry
H02486                      Disease                                
Name
HELIX syndrome
Description
HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02486  HELIX syndrome
Pathway
hsa04530  Tight junction
hsa04514  Cell adhesion molecules
Gene
CLDN10 [HSA:9071] [KO:K06087]
Other DBs
ICD-11: LD27.Y
ICD-10: L98.8
OMIM: 617671
Reference
PMID:28771254
  Authors
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H
  Title
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
  Journal
Genet Med 20:190-201 (2018)
DOI:10.1038/gim.2017.71

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

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