Details of Disease

General Information of Disease (ID: DISRDXZX)

• Disease Name: Isolated congenital adermatoglyphia
• Synonyms: absence of fingerprints; ADG; fingerprints, absence of; adermatoglyphia; immigration delay disease; ADERM; isolated congenital adermatoglyphia; congenital absence of fingerprints
• Definition: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DISSCALK: Hereditary skin disorder
  DISRDXZX: Isolated congenital adermatoglyphia
• Disease Identifiers:
  MONDO ID: MONDO_0007619
  MESH ID: C565010
  UMLS CUI: C1852150
  OMIM ID: 136000
  MedGen ID: 338875
  HPO ID: HP:0007455
  Orphanet ID: 289465
  SNOMED CT ID: 763748007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCAD1	OT90AZTX	Strong	Autosomal dominant	[1]

References

• [1] A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am J Hum Genet. 2011 Aug 12;89(2):302-7. doi: 10.1016/j.ajhg.2011.07.004. Epub 2011 Aug 4.