PedAM
Pediatric Disease Annotations & Medicines
| juvenile xanthogranuloma | ||||
| Disease ID | 298 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Definition | Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis. |
| Synonym | congenital xanthoma tuberosum juvenile giant cell granuloma juvenile xanthogranuloma (disorder) juvenile xanthogranulomas juvenile xanthoma juvenile xanthomas jxg jxg - juvenile xanthogranuloma multiple eruptive juvenile xanthogranuloma multiple eruptive juvenile xanthogranuloma (disorder) multiple eruptive xanthoma in infancy naevoxanthoendothelioma naevoxanthoendothelioma (disorder) nevoxanthoendothelioma nevoxanthoendotheliomas xanthogranuloma juvenile xanthogranuloma, juvenile xanthogranuloma, juvenile [disease/finding] xanthogranulomas, juvenile xanthoma naeviforme xanthoma neviforme xanthoma, juvenile xanthomas, juvenile |
| Orphanet | |
| DOID | |
| UMLS | C0043324 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0085113 | neurofibromatosis | 2 C0024301 | follicular lymphoma | 1 C0024299 | lymphoma | 1 C0035305 | retinal detachment | 1 C0020581 | hyphema | 1 C0029134 | optic neuritis | 1 C0086543 | cataracts | 1 C1527390 | intracranial tumor | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:45) 4680 | CEACAM6 | DISEASES 968 | CD68 | DISEASES 4005 | LMO2 | DISEASES 3557 | IL1RN | DISEASES 4069 | LYZ | DISEASES 4481 | MSR1 | DISEASES 29999 | FSCN3 | DISEASES 91937 | TIMD4 | DISEASES 673 | BRAF | DISEASES 909 | CD1A | DISEASES 117159 | DCD | DISEASES 5604 | MAP2K1 | DISEASES 947 | CD34 | DISEASES 84868 | HAVCR2 | DISEASES 23166 | STAB1 | DISEASES 3563 | IL3RA | DISEASES 5781 | PTPN11 | DISEASES 1508 | CTSB | DISEASES 4771 | NF2 | DISEASES 26762 | HAVCR1 | DISEASES 5265 | SERPINA1 | DISEASES 4763 | NF1 | DISEASES 5573 | PRKAR1A | DISEASES 2526 | FUT4 | DISEASES 9332 | CD163 | DISEASES 6693 | SPN | DISEASES 5788 | PTPRC | DISEASES 910 | CD1B | DISEASES 911 | CD1C | DISEASES 7170 | TPM3 | DISEASES 6280 | S100A9 | DISEASES 5236 | PGM1 | DISEASES 4303 | FOXO4 | DISEASES 369 | ARAF | DISEASES 6624 | FSCN1 | DISEASES 12 | SERPINA3 | DISEASES 5609 | MAP2K7 | DISEASES 3119 | HLA-DQB1 | DISEASES 50489 | CD207 | DISEASES 9842 | PLEKHM1 | DISEASES 23210 | JMJD6 | DISEASES 6490 | PMEL | DISEASES 2053 | EPHX2 | DISEASES 3347 | HTN3 | DISEASES 79104 | MEG8 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 298 |
|---|---|
| Disease | juvenile xanthogranuloma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0200064 | Asymmetry of iris pigmentation HP:0002086 | Abnormality of the respiratory system HP:0000498 | Blepharitis HP:0011886 | Hyphema HP:0000520 | Proptosis HP:0000572 | Visual loss HP:0007565 | Multiple cafe-au-lait spots HP:0005547 | Myeloproliferative disorder HP:0000501 | Glaucoma HP:0000554 | Uveitis HP:0001101 | Iritis HP:0011830 | Abnormality of oral mucosa |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001067 | Neurofibromas | 2 HP:0030049 | Brain abscess | 1 HP:0002665 | Lymphoma | 1 HP:0000541 | Detached retina | 1 HP:0011886 | Hyphema | 1 HP:0100653 | Optic neuritis | 1 HP:0000518 | Cataract | 1 |
| Disease ID | 298 |
|---|---|
| Disease | juvenile xanthogranuloma |
| 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.) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000163 | Abnormality of the oral cavity | MP:0006271 | abnormal involution of the mammary gland;HP:0000957 | Cafe-au-lait spot |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000163 | Abnormality of the oral cavity | MP:0010211 | abnormal acute phase protein level;HP:0002086 | Abnormality of the respiratory system |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |