DISEASES

Disease-gene associations mined from literature

Human genes for familial progressive hyperpigmentation with or without hypopigmentation

Familial progressive hyperpigmentation with or without hypopigmentation [DOID:0111373]

A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32.

Synonyms:  familial progressive hyperpigmentation with or without hypopigmentation,  DOID:0111373,  hereditary progressive hyperpigmentation with or without hypopigmentation,  familial progressive hyperpigmentation with or without hypopigmentations,  FPHH ...