Details of Disease | DrugMAP

General Information of Disease (ID: DIS891VG)

Disease Name	Familial progressive hyper- and hypopigmentation
Synonyms	FPHH
Definition	Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple caf-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated caf-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
Disease Hierarchy	DIS2MULR: Hyperpigmentation with or without hypopigmentation, familial progressive DIS891VG: Familial progressive hyper- and hypopigmentation
Disease Identifiers	MONDO ID MONDO_0017239 UMLS CUI C4706423 MedGen ID 1643385 Orphanet ID 280628 SNOMED CT ID 763368004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

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]
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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]
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References

1	KITLG mutations cause familial progressive hyper- and hypopigmentation. J Invest Dermatol. 2011 Jun;131(6):1234-9. doi: 10.1038/jid.2011.29. Epub 2011 Mar 3.