Dermatopathia pigmentosa reticularis: genes and variants
Dermatopathia pigmentosa reticularis is linked to 1 analyzed protein (KRT14). 8 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dermatopathia pigmentosa reticularis
KRT14: Keratin, type I cytoskeletal 14
It pairs with keratin 5 to provide mechanical strength to basal epidermal keratinocytes. Dominant-negative variants are a major cause of epidermolysis bullosa simplex, while other variants can cause pigmentation disorders or ectodermal phenotypes.
8 disease-causing and 1 uncertain variants in KRT14 are linked to Dermatopathia pigmentosa reticularis.
Where Dermatopathia pigmentosa reticularis variants cluster
- KRT14 Coil 1A (positions 115–150): 7 of 8 disease-causing changes, 11.5× more than its size predicts.
Known disease-causing variants in Dermatopathia pigmentosa reticularis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT14 R125H | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125P | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125G | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125S | 125 | IF rod | Disease-causing (★★) |
| KRT14 M119V | 119 | IF rod | Disease-causing (★★) |
| KRT14 R388H | 388 | IF rod | Disease-causing (★★) |
| KRT14 D124E | 124 | IF rod | Disease-causing (★) |
| KRT14 M119R | 119 | IF rod | Disease-causing (★) |
Which prediction tools work for Dermatopathia pigmentosa reticularis
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 96 out of 100
Same protein, different disease
- Epidermolysis bullosa simplex, Koebner type is also caused by KRT14 variants; they fall mostly in different places as the Dermatopathia pigmentosa reticularis variants (7 disease-causing).
- Epidermolysis bullosa simplex is also caused by KRT14 variants; they fall mostly in different places as the Dermatopathia pigmentosa reticularis variants (6 disease-causing).
- Epidermolysis bullosa simplex 1A, generalized severe is also caused by KRT14 variants; they fall mostly in different places as the Dermatopathia pigmentosa reticularis variants (6 disease-causing).
- Epidermolysis bullosa simplex 1C, localized is also caused by KRT14 variants; they fall mostly in different places as the Dermatopathia pigmentosa reticularis variants (4 disease-causing).
Diseases related to Dermatopathia pigmentosa reticularis
- Epidermolysis bullosa simplex, also linked to KRT14
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to KRT14
- Epidermolysis bullosa simplex, Koebner type, also linked to KRT14
- Epidermolysis bullosa simplex 1C, localized, also linked to KRT14
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, also linked to KRT14
Frequently asked questions
Which genes are linked to Dermatopathia pigmentosa reticularis?
In CATVariant, Dermatopathia pigmentosa reticularis is linked to 1 analyzed protein: KRT14 (Keratin, type I cytoskeletal 14).
How many genetic variants are linked to Dermatopathia pigmentosa reticularis?
14 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dermatopathia pigmentosa reticularis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Dermatopathia pigmentosa reticularis?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 8 disease-causing and 10 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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