eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dermatopathia pigmentosa reticularis | ||||
| Disease ID | 1283 |
|---|---|
| Disease | dermatopathia pigmentosa reticularis |
| Definition | Dermatopathia pigmentosa reticularis (DPR), also known as dermatopathia pigmentosa reticularis hyperkeratotica et mutilans, dermatopathia pigmentosa reticularis hypohidotica et atrophica and dermatopathic pigmentosa reticularis,[1]:511 is a rare, autosomal dominant[2] congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.[3]:856 - Wikipedia Reference: https://en.wikipedia.org/wiki/dermatopathia pigmentosa reticularis |
| Synonym | dermatopathia pigmentosa reticularis (disorder) dpr dpr - dermatopathia pigmentosa reticularis |
| Orphanet | |
| OMIM | |
| UMLS | C0406778 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) KRT14 | 17q21.2 |
| Disease ID | 1283 |
|---|---|
| Disease | dermatopathia pigmentosa reticularis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0012788 | Mottled pigmentation of oral mucosa HP:0000972 | Thick palms and soles HP:0007550 | Lack of sweating or excessive sweating HP:0007588 | Reticulate hyperpigmentation HP:0007455 | Adermatoglyphia HP:0008404 | Dystrophic nails HP:0002293 | Scalp hair loss HP:0000502 | Abnormality of the conjunctiva |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1283 |
|---|---|
| Disease | dermatopathia pigmentosa reticularis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0022596 | palmoplantar keratoderma |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs60831116 | NA | 3861 | KRT14 | umls:C0406778 | CLINVAR | NA | 0.360542884 | NA | KRT14 | 17 | 41586781 | G | T,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000502 | Abnormality of the conjunctiva | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0002293 | Alopecia of scalp | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002293 | Alopecia of scalp | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0007455 | Adermatoglyphia | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0007588 | Reticular hyperpigmentation | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0012788 | Reticulate pigmentation of oral mucosa | MP:0011086 | postnatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) |
| HP:0000502 | Abnormality of the conjunctiva | MP:0013352 | abnormal Rathke's pouch apoptosis | any change in the timing or number of Rathke's pouch cells undergoing programmed cell death |
| HP:0007550 | Hypohidrosis or hyperhidrosis | MP:0011086 | postnatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) |
| Disease ID | 1283 |
|---|---|
| Disease | dermatopathia pigmentosa reticularis |
| Case | (Waiting for update.) |