KEGG   DISEASE: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
Entry
H02318                      Disease                                
Name
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  Supergrp
46,XX testicular disorder of sex development [DS:H00598]
Description
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation.
Category
Reproductive system 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 and epidermal appendages
    Disorders of epidermal keratinisation
     ED55  Palmoplantar keratodermas
      H02318  Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H02318  Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
Pathway
hsa04310  Wnt signaling pathway
Gene
RSPO1 [HSA:284654] [KO:K19471]
Other DBs
ICD-11: ED55 LD2A.Y
MeSH: C567165
OMIM: 610644
Reference
PMID:17041600
  Authors
Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G
  Title
R-spondin1 is essential in sex determination, skin differentiation and malignancy.
  Journal
Nat Genet 38:1304-9 (2006)
DOI:10.1038/ng1907
Reference
PMID:29575617
  Authors
Tallapaka K, Venugopal V, Dalal A, Aggarwal S
  Title
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
  Journal
Am J Med Genet A 176:1006-1010 (2018)
DOI:10.1002/ajmg.a.38646
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