KEGG   DISEASE: Alopecia universalis
Entry
H01158                      Disease                                
Name
Alopecia universalis
Description
Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the epidermis or epidermal appendages
    Disorders of hair
     ED70  Alopecia or hair loss
      H01158  Alopecia universalis
Gene
HR [HSA:55806] [KO:K00478]
Drug
Baricitinib [DR:D10308]
Ritlecitinib tosylate [DR:D11970]
Deuruxolitinib phosphate [DR:D11867]
Other DBs
ICD-11: ED70.2
MeSH: C537055
OMIM: 203655
Reference
  Authors
Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N
  Title
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
  Journal
Dermatol Online J 17:3 (2011)
Reference
PMID:9445480
  Authors
Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM
  Title
Alopecia universalis associated with a mutation in the human hairless gene.
  Journal
Science 279:720-4 (1998)
DOI:10.1126/science.279.5351.720
Reference
PMID:9736769
  Authors
Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM
  Title
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
  Journal
Hum Mol Genet 7:1671-9 (1998)
DOI:10.1093/hmg/7.11.1671
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