KEGG   DISEASE: Adermatoglyphia
Entry
H02295                      Disease                                
Name
Adermatoglyphia
Description
Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.
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
    LC7Y  Other specified structural developmental anomalies of the skin
     H02295  Adermatoglyphia
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
Gene
SMARCAD1 [HSA:56916] [KO:K14439]
Other DBs
ICD-11: LC7Y
OMIM: 136000
Reference
PMID:21820097
  Authors
Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E
  Title
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
  Journal
Am J Hum Genet 89:302-7 (2011)
DOI:10.1016/j.ajhg.2011.07.004
Reference
PMID:24909267
  Authors
Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E
  Title
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
  Journal
Br J Dermatol 171:1521-4 (2014)
DOI:10.1111/bjd.13176
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