Details of Disease

General Information of Disease (ID: DIS3VEZ5)

• Disease Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
• Synonyms: palmoplantar hyperkeratosis and true hermaphroditism; palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal; palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
• Definition: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.
• Disease Hierarchy:
  DISJOG7M: 46,XX disorder of sex development
  DISCPWH9: Autosomal recessive disease
  DIS6O9JS: Diffuse palmoplantar keratoderma
  DIS3VEZ5: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012530
  UMLS CUI: C3149931
  OMIM ID: 610644
  MedGen ID: 461281
  Orphanet ID: 85112

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RSPO1	TTI9HL4	Strong	Autosomal recessive	[1]
RSPO1	TTI9HL4	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RSPO1	OT0GV1HD	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] RSPO1/-catenin signaling pathway regulates oogonia differentiation and entry into meiosis in the mouse fetal ovary.PLoS One. 2011;6(10):e25641. doi: 10.1371/journal.pone.0025641. Epub 2011 Oct 3.