| Incontinentia Pigmenti | XLD | (NEMO) NF-κB Essential modulator | Transcription factor |
| Autosomal Dominant Inheritance |
| Angioedema, hereditary (Quincke's) | (C1INH) C1 esterase inhibitor | Inhibits first component of complement |
| Bannayan-Riley-Ruvalcaba | (PTEN) phosphatase and tensin homolog | Tumor suppressor |
| Bart syndrome | (COL7A1) type VII collagen | Anchoring fibril |
| Basal cell nevus syndrome (Gorlin) | (PTCH) patched homolog (Drosophila) | Inhibits "smoothened" signaling; this inhibition blocked by "hedgehog" |
| Bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) | Keratins 1 and 10 | Intermediate filament |
| Bullous ichthyosis of Siemens | Keratin 2e | Intermediate filament |
| Carney complex (LAMB [lentigenes, atrial myxomas, mucocutaneous myxomas, blue nevi], NAME [nevi, atrial myxomas, myxoid neurofibromas, ephilides]) | (PRKAR1A) | R1 regulatory subunit of protein kinase A |
| Cowden syndrome (multiple hamartoma syndrome) | (PTEN) | Tumor suppressor |
| Darier disease (keratosis follicularis) | (SERCA2) calcium ATPase2A2 | Calcium-dependent ATPase |
| Ectodermal dysplasia, hidrotic (Clouston's) | ED2 gene, HED gene/connexin-30 | Gap junction protein |
| Ectodermal dysplasia with skin fragility | Plakophilin 1 | Structural |
| Epidermolysis bullosa, dominant dystrophic (EB) | (Col7A1) Type VII collagen | Anchoring fibril |
| Epidermolysis bullosa simplex (EBS) | Keratins 5 and 14 | Intermediate filament |
| Erythrokeratodermia variabilis (EKV) | Connexin-31 | Gap junction protein |
| Gardner syndrome | (APC) adenomatosis polyposis coli | Tumor suppressor (cleaves β-catenin) |
| Hailey-Hailey disease | (ATPase2C1) | Calcium-dependent ATPase |
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) | Endoglin, Alk-1 gene activin receptor-binding kinase | TGF-β signaling pathway |
| Lhermitte-Duclos syndrome | (PTEN) | Tumor suppressor |
| MEN I | (MEN1) menin gene | Tumor supressor |
| MEN IIa and IIb | (RET) receptor tyrosine kinase | Proto-oncogene |
| Milroy disease (Nonne-Milroy-Meige syndrome) | (FLT-4) a.k.a (VEGFr-3) | Growth factor receptor |
| Monilethrix | KRT hHb6 and hHb1, KRT86, KRT81, KRT83, DSG4 Type II human hair keratins, 6 & 1 | Intermediate filament |
| Muir-Torre syndrome | MLH1, MSH2, MLH6 | Mismatch repair gene |
| Nail-Patella syndrome | LMX1B gene | Homeobox domain transcription factor |
| Neurofibromatosis I | NF-1 (neurofibromin) | Increases GTPase activity of ras |
| Neurofibromatosis II | NF-2 (schwannomin or Merlin) | Tumor suppressor |
| NOMID syndrome (neonatal onset multisystem inflammatory disease); also called CINCA syndrome | CIAS1 gene | Cryopyrin gene, role in innate immune response |
| Pachyonychia congenita | K6, K16, or K17 | Intermediate filament |
| Peutz-Jeghers syndrome | STK11 | Tumor suppressor |
| Piebaldism | (C-kit) | Proto-oncogene (tyrosine kinase) |
| Porphyria cutanea tarda | Uroporphyrinogen decarboxylase | |
| Porphyria, acute intermittent | Porphobilinogen deaminase | |
| Porphyria, erythropoietic protoporphyria (EPP) | Ferrochelatase | Mitochondrial gene |
| Porphyria, variegate | Protoporphyrinogen oxidase | Mitochondrial gene |
| Reed syndrome (cutaneous and uterine leiomyomatosis) | Fumarate hydratase | Tumor suppressor |
| Rubenstein-Taybi syndrome | (CBP) CREB-binding protein | Involved in cAMP-regulated gene expression |
| Striate PPK 1 | Desmoglein 1 | Structural protein |
| Striate PPK 2 | Desmoplakin | Structural protein |
| Tuberous sclerosis | (TSC1) on Chrom. 9 ... |