Dermatopathia pigmentosa reticularis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DPR |
| Number of Symptoms | 12 |
| OrphanetNr: | 86920 |
| OMIM Id: |
125595
|
| ICD-10: |
Q82.4 |
| UMLs: |
C0406778 |
| MeSH: |
C535374 |
| MedDRA: |
|
| Snomed: |
239088003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Genetic hyperpigmentation of the skin -Rare genetic disease Hyperpigmentation of the skin -Rare skin disease |
Symptom Information:
|
|
(HPO:0002293) | Alopecia of scalp | 9 / 7739 | ||||
|
|
(HPO:0000502) | Abnormality of the conjunctiva | 6 / 7739 | ||||
|
|
(HPO:0000972) | Palmoplantar hyperkeratosis | 41 / 7739 | ||||
|
|
(HPO:0007588) | Reticular hyperpigmentation | 9 / 7739 | ||||
|
|
(HPO:0007455) | Adermatoglyphia | 4 / 7739 | ||||
|
|
(HPO:0007550) | Hypohidrosis or hyperhidrosis | 1 / 7739 | ||||
|
|
(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
|
|
(HPO:0012788) | Reticulate pigmentation of oral mucosa | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Reticulate pigmentation (bulbar conjunctiva) | 1 / 7739 | ||||
|
|
(OMIM) | Noncicatricial alopecia (scalp, eyebrows, axillary hair) | 1 / 7739 | ||||
|
|
(OMIM) | Nonscarring blisters (hand, feet, forearms) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Dermatopathia pigmentosa reticularis (DPR) is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Heimer et al. (1992) described ... |
| Molecular genetics OMIM |
Lugassy et al. (2006) found that the NFJS/DPR locus harbored 230 genes, including a large cluster of keratin genes. They found heterozygous nonsense or frameshift mutations in the KRT14 gene (148066) that segregated with the disease traits in ... |