eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alopecia universalis | ||||
| Disease ID | 134 |
|---|---|
| Disease | alopecia universalis |
| Definition | Loss of all hair on the entire body. [HPO:probinson] |
| Synonym | alopecia universalis (disorder) alopecia, complete atrichia, generalized generalized atrichia universal alopecia universal alopecia areata |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0263505 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0042900 | vitiligo | 2 C0003873 | rheumatoid arthritis | 1 C0020619 | hypogonadism | 1 C0079773 | cutaneous t cell lymphoma | 1 C0026848 | myopathy | 1 C0002173 | follicular mucinosis | 1 C0003864 | arthritis | 1 C0162855 | mucinosis | 1 C0020555 | hypertrichosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 56244 | BTNL2 | 2.381 | DISEASES 64115 | C10orf54 | 2.102 | DISEASES 22943 | DKK1 | 1.407 | DISEASES 2159 | F10 | 1.643 | DISEASES 23017 | FAIM2 | 2.711 | DISEASES 50943 | FOXP3 | 1.857 | DISEASES 3105 | HLA-A | 2.369 | DISEASES 3106 | HLA-B | 1.28 | DISEASES 3109 | HLA-DMB | 2.379 | DISEASES 3127 | HLA-DRB5 | 1.918 | DISEASES 55806 | HR | 4.877 | DISEASES 3440 | IFNA2 | 1.006 | DISEASES 3716 | JAK1 | 1.344 | DISEASES 3718 | JAK3 | 1.605 | DISEASES 5927 | KDM5A | 2.935 | DISEASES 100859921 | LINC00536 | 4.865 | DISEASES 51360 | MBTPS2 | 2.78 | DISEASES 4855 | NOTCH4 | 2.168 | DISEASES 5406 | PNLIP | 1.55 | DISEASES 26191 | PTPN22 | 2.431 | DISEASES 55315 | SLC29A3 | 2.421 | DISEASES 7096 | TLR1 | 1.856 | DISEASES 7133 | TNFRSF1B | 1.382 | DISEASES 7227 | TRPS1 | 2.695 | DISEASES 7421 | VDR | 2.166 | DISEASES 7503 | XIST | 2.545 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) HR | 8p21.3 |
| Disease ID | 134 |
|---|---|
| Disease | alopecia universalis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0002229 | Alopecia areata HP:0000561 | Absent eyelashes HP:0002223 | Absent eyebrow HP:0002289 | Alopecia universalis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0001045 | Blotchy loss of skin color | 2 HP:0000998 | Hypertrichosis | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0003198 | Myopathic changes | 1 HP:0001596 | Hair loss | 1 HP:0001369 | Arthritis | 1 HP:0000010 | Frequent urinary tract infections | 1 HP:0000135 | Hypogonadism | 1 HP:0012190 | T cell lymphoma | 1 |
| Disease ID | 134 |
|---|---|
| Disease | alopecia universalis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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 |
| rs104894562 | 22590644 | 8456 | FOXN1 | umls:C0263505 | BeFree | Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant double-negative αβ T-cells (CD4negCD8neg, DN) and regulatory-like T-cells. | 0.000271442 | 2012 | FOXN1 | 17 | 28529157 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002289 | Alopecia universalis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0002223 | Absent eyebrow | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000561 | Absent eyelashes | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002229 | Alopecia areata | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| Disease ID | 134 |
|---|---|
| Disease | alopecia universalis |
| Case | (Waiting for update.) |