Version June 2024
| Disease | Gene(s) | Gene locus | Gene function | Caused defect |
| Genes involved in early melanocyte development and function | ||||
| Dyschromatosis symmetrica hereditaria (DSH, OMIM #127400) | ADAR | 1q21.3 | Catalyzing the deamination of adenosine to inosine in dsRNA substrates | Failure of correct RNA editing during melanoblast migration: Irregular distribution of hyper- or hypoactive melanocytes in the skin |
| Incontinentia pigmenti (IP, OMIM #308300) | NEMO | Xq28 | Essential for NF-ΚB activation | Mutations or deletions: Abnormal self-destruction (apoptosis) of MCs |
| Neurofibromatosis type I (NF1, OMIM #162200) | NF1 | 17q11.2 | Gene involved in melanosome localization | Disruption of NF1-dynein heavy chain 1 interaction: Increased trafficking of melanosomes in melanocytes of café-au-lait macules |
| Genes involved in pigmentation and related pathways | ||||
| Familial progressive hyperpigmentation (FPH, OMIM #145250) | KITLG | 12q22 | Melanogenesis | Gain-of-function mutations: Increased TYR activity |
| Carney complex (CNC1, OMIM #160980) | PRKAR1A | 17q24.2 | Crucial signaling factor in cAMP pathway | Mutated PRKAR1A: Increased cAMP activity |
| McCune-Albright syndrome (MAS, OMIM #174800) | GNAS1 | 20q13.32 | alpha-subunit of Gs protein (GTPase) | Gain-of-function mutations: Increased cAMP activity |
| Deregulation of the tyrosinase gene | ||||
| Fanconi's anemia | ||||
| (FANCA, OMIM #227650) | FANCA | 16q24.3 | DNA repair maintenance of chromosomal integrity | Overactivation of TYR activity due to reduced thioredoxin levels |
| (FANCB, OMIM #300514) | FANCB | Xp22.2 | ||
| (FANCC, OMIM #227645) | FANCC | 9q22.32 | ||
| (FANCD1, OMIM #605724) | BRCA2 | 13q13.1 | ||
| (FANCD2, OMIM #227646) | FANCD2 | 3p25.3 | ||
| (FANCE, OMIM #600901) | FANCE | 6p21.31 | ||
| Genes involved in cell structure and metabolism | ||||
| Naegeli-Franceschetti-Jadassohn syndrome (NFJ, OMIM #161000) | KRT14 | 17q21.2 | Melanosome uptake in keratinocytes | Abnormal melanin distribution in keratinocytes |
| Dowling-Degos syndrome (DGS, OMIM #179850) | KRT5 | 12q13.13 | Melanosome uptake in keratinocytes; organelle transport | Deficient melanin aggregation in keratinocytes |
| Peutz-Jeghers syndrome (PJS, OMIN #175200) | STK11 | 19p13.3 | Serine/threonine kinase regulates cell polarity and tumor suppressor function | Dysregulation of mTOR pathway; dysregulation of Wnt pathway |
| LEOPARD syndrome (LS, OMIM #151100) | PTPN11 | 12q24.13 | Tyrosine phosphatase | Dysregulation of mTOR pathway; increased RAS activity |
| Genes involved in DNA repair or senescence | ||||
| Xeroderma pigmentosum | ||||
| (XPA, OMIM #278700) | XPA | 9q22.33 | DNA repair gene | Failure of nucleotide excision repair machinery |
| (XPB, OMIM #610651) | ERCC3 | 2q14.3 | ||
| (XPC, OMIM #278720) | XPC | 3p25.1 | ||
| (XPD, OMIM #278730) | ERCC2 | 19q13.32 | ||
| (XPE, OMIM #278740) | DDB2 | 11p11.2 | ||
| (XPF, OMIM #278760) | ERCC4 | 16p13.12 | ||
| (XPG, OMIM #278780) | ERCC5 | 13q33.1 | ||
| Dyskeratosis congenita | ||||
| (DKCX, OMIM #305000) | DKC1 | Xq28 | Components of the telomerase complex | Accumulation of DNA damage increased melanin synthesis in senescent melanocytes |
| (DKCA1, OMIM #127550) | TERC | 3q26.2 | ||
| (DKCA2, OMIM #613989) | TERT | 5p15.3 | ||
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