Details of Disease

General Information of Disease (ID: DISVYG2G)

• Disease Name: Familial progressive hyperpigmentation
• Synonyms: hyperpigmentation, familial progressive, 1; Fph; FPH1; universal melanosis; melanosis diffusa congenita; melanosis universalis hereditaria
• Definition: Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.
• Disease Hierarchy:
  DISQ205R: Hyperpigmentation of the skin
  DISVYG2G: Familial progressive hyperpigmentation

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KITLG	TTDJ51N	Supportive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KITLG	OTB9AVQ4	Supportive	Autosomal dominant	[1]

References

• [1] Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. Am J Hum Genet. 2009 May;84(5):672-7. doi: 10.1016/j.ajhg.2009.03.019. Epub 2009 Apr 16.