KEGG   DISEASE: Becker nevus syndrome
Entry
H02716                      Disease                                
Name
Becker nevus syndrome
Description
Becker nevus syndrome (BNS) is a epidermal nevus syndrome characterized by the presence of a particular type of organoid epithelial nevus showing circumscribed hyperpigmentation with hypertrichosis, and developmental abnormalities of different organ systems. It has been identified that mutations in ACTB, encoding for beta-actin, are associated with BNS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skin
    Developmental hamartomata of the epidermis and epidermal appendages
     LC02  Complex epidermal hamartoma
      H02716  Becker nevus syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02716  Becker nevus syndrome
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04820  Cytoskeleton in muscle cells
Network
nt06539 Cytoskeleton in muscle cells
Gene
ACTB [HSA:60] [KO:K05692]
Other DBs
ICD-11: LC02
ICD-10: D22.5
OMIM: 604919
Reference
PMID:9024572
  Authors
Happle R, Koopman RJ
  Title
Becker nevus syndrome.
  Journal
Am J Med Genet 68:357-61 (1997)
Reference
  Authors
Cai ED, Sun BK, Chiang A, Rogers A, Bernet L, Cheng B, Teng J, Rieger KE, Sarin KY
  Title
Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.
  Journal
J Invest Dermatol 137:1795-1798 (2017)
DOI:10.1016/j.jid.2017.03.017
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