eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| localized scleroderma | ||||
| Disease ID | 421 |
|---|---|
| Disease | localized scleroderma |
| Definition | A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types. |
| Synonym | addison's keloid circumscribe scleroderma circumscribed scleroderma circumscribed scleroderma nos circumscribed scleroderma nos (disorder) dermatosclerosis, localized localised dermatosclerosis localised morphoea localised morphoea (disorder) localised scleroderma localized dermatosclerosis localized morphea localized morphea (disorder) localized scleroderma (disorder) localized scleroderma (disorder) [ambiguous] localized scleroderma morphea morphea morphea scleroderma morphoea scleroderma scleroderma localized scleroderma morphea scleroderma, circumscribed scleroderma, circumscribed or localized scleroderma, localized scleroderma, localized [disease/finding] sclerodermas, localized unspecified circumscribed scleroderma unspecified circumscribed scleroderma (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0036420 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C1527383 | morphea | 2 C0409974 | lupus erythematosus | 2 C0015645 | fasciitis | 2 C0015458 | parry-romberg syndrome | 2 C0019196 | hepatitis c | 1 C0011849 | diabetes mellitus | 1 C0011616 | contact dermatitis | 1 C0011644 | scleroderma | 1 C0162820 | allergic contact dermatitis | 1 C0023787 | lipodystrophy | 1 C0024141 | systemic lupus erythematosus | 1 C0026848 | myopathy | 1 C0206138 | crest syndrome | 1 C0011847 | diabetes | 1 C0019158 | hepatitis | 1 C0021053 | immune disease | 1 C0036421 | systemic sclerosis | 1 C0027121 | inflammatory myopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:42) 441376 | AARD | 3.352 | DISEASES 9719 | ADAMTSL2 | 2.869 | DISEASES 9138 | ARHGEF1 | 5.138 | DISEASES 488 | ATP2A2 | 1.066 | DISEASES 54796 | BNC2 | 2.591 | DISEASES 50489 | CD207 | 1.339 | DISEASES 959 | CD40LG | 3.505 | DISEASES 387836 | CLEC2A | 1.42 | DISEASES 170482 | CLEC4C | 1.662 | DISEASES 1490 | CTGF | 1.681 | DISEASES 414325 | DEFB103A | 1.449 | DISEASES 55894 | DEFB103B | 1.449 | DISEASES 6993 | DYNLT1 | 1.637 | DISEASES 2086 | ERV3-1 | 2.342 | DISEASES 30816 | ERVW-1 | 1.357 | DISEASES 5394 | EXOSC10 | 1.359 | DISEASES 2200 | FBN1 | 2.278 | DISEASES 2213 | FCGR2B | 1.844 | DISEASES 2313 | FLI1 | 2.182 | DISEASES 3045 | HBD | 1.013 | DISEASES 8337 | HIST2H2AA3 | 1.915 | DISEASES 8338 | HIST2H2AC | 1.915 | DISEASES 8349 | HIST2H2BE | 1.623 | DISEASES 3105 | HLA-A | 2.299 | DISEASES 3339 | HSPG2 | 1.608 | DISEASES 3456 | IFNB1 | 1.148 | DISEASES 3605 | IL17A | 1.42 | DISEASES 64806 | IL25 | 2.119 | DISEASES 643418 | LIPN | 1.483 | DISEASES 4145 | MATK | 1.666 | DISEASES 4312 | MMP1 | 3.479 | DISEASES 26227 | PHGDH | 1.102 | DISEASES 10631 | POSTN | 1.828 | DISEASES 11168 | PSIP1 | 2.629 | DISEASES 6401 | SELE | 1.058 | DISEASES 390598 | SKOR1 | 2.721 | DISEASES 4088 | SMAD3 | 1.753 | DISEASES 6625 | SNRNP70 | 3.301 | DISEASES 7042 | TGFB2 | 1.491 | DISEASES 7124 | TNF | 1.449 | DISEASES 7133 | TNFRSF1B | 1.479 | DISEASES 7150 | TOP1 | 2.93 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 421 |
|---|---|
| Disease | localized scleroderma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C0442893 | systemic disease C0344297 | choroidal sclerosis C0220989 | acquired partial lipodystrophy C0040034 | thrombocytopenia C0037763 | spasm C0037285 | skin manifestations C0037284 | skin lesions C0036421 | systemic sclerosis C0027121 | inflammatory myopathy C0026821 | muscle cramps C0021053 | immune disorders C0007137 | squamous cell carcinoma C0006272 | bronchiolitis obliterans |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004552 | Scarring alopecia of scalp | MP:0000043 | organ of Corti degeneration | a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis |
| HP:0001010 | Hypopigmentation of the skin | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0030053 | Stiff skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0000953 | Hyperpigmentation of the skin | 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:0005830 | Flexion contracture of toe | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100556 | Hemiatrophy | MP:0011101 | prenatal 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 between fertilization and birth (Mus: approximately E18.5) |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000953 | Hyperpigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004552 | Scarring alopecia of scalp | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0005830 | Flexion contracture of toe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0030053 | Stiff skin | MP:0012157 | rostral body truncation | rostral part of body truncated; typically with the caudal portion of the body relatively normal |
| HP:0001073 | Cigarette-paper scars | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001010 | Hypopigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 421 |
|---|---|
| Disease | localized scleroderma |
| Case | (Waiting for update.) |