eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| darier disease | ||||
| Disease ID | 198 |
|---|---|
| Disease | darier disease |
| Definition | slowly progressive autosomal dominant disorder of keratinization with papules on the seborrheic areas of the body that coalesce to form plaques which may become crusted and secondarily infected; lesions may darken and fuse over time to form papillomatous and warty malodorous growths. |
| Synonym | dar darier dis darier disease [disease/finding] darier white disease darier's disease darier's disease (disorder) darier-white disease darier-white diseases dariers dis dariers disease disease, darier disease, darier's disease, darier-white diseases, darier-white dyskeratosis follicularis follicular keratosis hereditary follicular keratosis keratosis follicularis keratosis follicularis (disorder) psorospermosis psorospermosis follicularis vegetans psorospermosis, follicularis white-darier disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022595 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0001418 | adenocarcinoma | 1 C0010232 | cowpox | 1 C0015230 | rash | 1 C0029401 | paget disease | 1 C0014868 | oesophagitis | 1 C0002170 | alopecia | 1 C0030805 | pemphigoid | 1 C0020758 | ichthyosis congenita | 1 C0030805 | bullous pemphigoid | 1 C0022596 | palmoplantar keratoderma | 1 C0014544 | epilepsy | 1 C0020757 | ichthyosis | 1 C0014236 | endophthalmitis | 1 C0278701 | gastric adenocarcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 488 | ATP2A2 | 7.728 | DISEASES 489 | ATP2A3 | 2.479 | DISEASES 27032 | ATP2C1 | 5.241 | DISEASES 633 | BGN | 1.281 | DISEASES 722 | C4BPA | 2.201 | DISEASES 51744 | CD244 | 2.285 | DISEASES 960 | CD44 | 1.437 | DISEASES 4166 | CHST6 | 2.401 | DISEASES 1154 | CISH | 1.038 | DISEASES 1364 | CLDN4 | 1.331 | DISEASES 387836 | CLEC2A | 1.675 | DISEASES 1382 | CRABP2 | 1.954 | DISEASES 27185 | DISC1 | 1.654 | DISEASES 1825 | DSC3 | 1.703 | DISEASES 1832 | DSP | 4.419 | DISEASES 2707 | GJB3 | 1.926 | DISEASES 127534 | GJB4 | 2.586 | DISEASES 3563 | IL3RA | 1.13 | DISEASES 3713 | IVL | 3.44 | DISEASES 3850 | KRT3 | 2.221 | DISEASES 3851 | KRT4 | 2.045 | DISEASES 378805 | LINC-PINT | 2.294 | DISEASES 4772 | NFATC1 | 1.092 | DISEASES 5027 | P2RX7 | 1.202 | DISEASES 5053 | PAH | 1.38 | DISEASES 5367 | PMCH | 2.884 | DISEASES 5625 | PRODH | 2.764 | DISEASES 6161 | RPL32 | 2.735 | DISEASES 6278 | S100A7 | 1.66 | DISEASES 6303 | SAT1 | 1.606 | DISEASES 6520 | SLC3A2 | 1.395 | DISEASES 83959 | SLC4A11 | 2.227 | DISEASES 4070 | TACSTD2 | 1.656 | DISEASES 6925 | TCF4 | 1.399 | DISEASES 7045 | TGFBI | 1.279 | DISEASES 7053 | TGM3 | 1.841 | DISEASES 7222 | TRPC3 | 1.916 | DISEASES 29914 | UBIAD1 | 2.426 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ATP2A2 | 12q24.11 |
| Disease ID | 198 |
|---|---|
| Disease | darier disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0200016 | Acral keratosis HP:0012733 | Macule HP:0011801 | Increased size of parotid gland HP:0001000 | Abnormality of skin pigmentation HP:0200037 | Skin vesicle HP:0001034 | Hyperpigmented spots HP:0008410 | Subungual hyperkeratotic fragments HP:0007302 | Bipolar disorder HP:0010612 | Plantar pits HP:0200016 | Acrokeratosis HP:0000982 | Palmoplantar keratoderma HP:0001250 | Seizures HP:0010610 | Palmar pits HP:0001807 | Grooved nails HP:0001595 | Abnormality of the hair HP:0001597 | Abnormality of the nail HP:0100753 | Schizophrenia HP:0001034 | Hypermelanotic macule HP:0001072 | Thickened skin HP:0000989 | Pruritus HP:0001256 | Mild mental retardation HP:0000989 | pruritis HP:0005212 | Anal mucosal leukoplakia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0200043 | Verrucae | 2 HP:0000982 | Palmoplantar keratoderma | 1 HP:0002224 | Woolly hair | 1 HP:0001596 | Hair loss | 1 HP:0008064 | Ichthyosis | 1 HP:0100534 | Episcleritis | 1 HP:0200016 | Acral keratosis | 1 HP:0001249 | Mental retardation | 1 HP:0100633 | Inflammation of the esophagus | 1 HP:0000708 | Behavioral problems | 1 |
| Disease ID | 198 |
|---|---|
| Disease | darier disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912731 | NA | 488 | ATP2A2 | umls:C0022595 | CLINVAR | NA | 0.592586463 | NA | ATP2A2 | 12 | 110292122 | C | T |
| rs121912734 | NA | 488 | ATP2A2 | umls:C0022595 | CLINVAR | NA | 0.592586463 | NA | ATP2A2 | 12 | 110339638 | T | C |
| rs121912737 | 22814319 | 488 | ATP2A2 | umls:C0022595 | BeFree | Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. | 0.592586463 | 2012 | ATP2A2 | 12 | 110340702 | C | T |
| rs121912738 | NA | 488 | ATP2A2 | umls:C0022595 | CLINVAR | NA | 0.592586463 | NA | ATP2A2 | 12 | 110296666 | G | A |
| rs28929478 | 10080178 | 488 | ATP2A2 | umls:C0022595 | UNIPROT | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. | 0.592586463 | 1999 | ATP2A2 | 12 | 110281857 | G | A |
| rs28929478 | NA | 488 | ATP2A2 | umls:C0022595 | CLINVAR | NA | 0.592586463 | NA | ATP2A2 | 12 | 110281857 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| HP:0011801 | Enlargement of parotid gland | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011801 | Enlargement of parotid gland | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0100753 | Schizophrenia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0005212 | Anal mucosal leukoplakia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010612 | Plantar pits | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007302 | Bipolar affective disorder | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0010610 | Palmar pits | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0008410 | Subungual hyperkeratotic fragments | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0200016 | Acrokeratosis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| Disease ID | 198 |
|---|---|
| Disease | darier disease |
| Case | (Waiting for update.) |