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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   histiocytosis
  

Disease ID 1465
Disease histiocytosis
Definition
General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS-CELL; and HISTIOCYTIC DISORDERS, MALIGNANT.
Synonym
histiocytic infiltrate
histiocytic infiltrate (morphologic abnormality)
histiocytic infiltrate, nos
histiocytic reaction
histiocytic reaction, nos
histiocytic syndrome
histiocytoses
histiocytosis (morphologic abnormality)
histiocytosis [disease/finding]
histiocytosis, nos
histiocytosis, unspecified
histiocytosis, unspecified (disorder)
reticuloendothelial cell infiltrate
reticuloendothelial cell infiltrate, nos
reticulohistiocytosis
reticulohistiocytosis, nos
DOID
UMLS
C0019618
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:63)
C0024299  |  lymphoma  |  5
C0011847  |  diabetes  |  5
C0011848  |  diabetes insipidus  |  4
C0003873  |  rheumatoid arthritis  |  3
C0242647  |  mucosa-associated lymphoid tissue  |  2
C0019204  |  liver carcinoma  |  2
C0687720  |  central diabetes insipidus  |  2
C0079748  |  lymphoblastic lymphoma  |  2
C0598894  |  monocytic leukemia  |  2
C0007115  |  thyroid ca  |  2
C0032285  |  pneumonia  |  2
C0549473  |  thyroid carcinoma  |  2
C0020542  |  pulmonary hypertension  |  2
C0238463  |  papillary thyroid carcinoma  |  2
C0011854  |  insulin dependent diabetes  |  1
C0023895  |  liver disease  |  1
C0029401  |  paget's disease  |  1
C0011854  |  insulin dependent diabetes mellitus  |  1
C0020305  |  hydrops fetalis  |  1
C0242647  |  marginal zone b-cell lymphoma  |  1
C0023467  |  acute myeloid leukemia  |  1
C0878675  |  erdheim-chester disease  |  1
C0011633  |  dermatomyositis  |  1
C0085669  |  acute leukemia  |  1
C0007137  |  squamous cell carcinoma  |  1
C0006285  |  bronchopneumonia  |  1
C0029408  |  osteoarthritis  |  1
C0024314  |  lymphoproliferative disorders  |  1
C0030326  |  panniculitis  |  1
C0032131  |  plasmacytoma  |  1
C0004030  |  aspergillosis  |  1
C0023470  |  myeloid leukaemia  |  1
C0024291  |  hemophagocytic lymphohistiocytosis  |  1
C0002726  |  amyloidosis  |  1
C0019621  |  langerhans cell histiocytosis  |  1
C0078981  |  arachnoid cyst  |  1
C0023470  |  myeloid leukemia  |  1
C0011615  |  atopic dermatitis  |  1
C0024214  |  lymphangiectasia  |  1
C0008370  |  cholestasis  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0085669  |  acute leukemias  |  1
C0023467  |  acute myeloid leukaemia  |  1
C0684249  |  carcinoma of the lung  |  1
C0029182  |  orbital disease  |  1
C0032226  |  pleural disease  |  1
C1261473  |  sarcoma  |  1
C0001418  |  adenocarcinoma  |  1
C0021933  |  intussusception  |  1
C0152013  |  adenocarcinoma of the lung  |  1
C0029443  |  osteomyelitis  |  1
C0020538  |  hypertension  |  1
C0079731  |  b-cell lymphoma  |  1
C0948303  |  peritoneal carcinoma  |  1
C1136085  |  monoclonal gammopathy  |  1
C1527336  |  sjogren's syndrome  |  1
C0007134  |  renal cell carcinoma  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0042384  |  vasculitis  |  1
C0242647  |  mucosa-associated lymphoid tissue lymphoma  |  1
C0024115  |  lung disorders  |  1
C0015624  |  fanconi syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
673  |  BRAF  |  GHR
6609  |  SMPD1  |  UniProtKB-KW;GHR
4864  |  NPC1  |  UniProtKB-KW;GHR
55315  |  SLC29A3  |  CTD_human
10577  |  NPC2  |  UniProtKB-KW;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:116)
19  |  ABCA1  |  2.194  |  DISEASES
197  |  AHSG  |  1.231  |  DISEASES
238  |  ALK  |  1.134  |  DISEASES
347  |  APOD  |  1.858  |  DISEASES
367  |  AR  |  1.971  |  DISEASES
369  |  ARAF  |  3.186  |  DISEASES
414  |  ARSD  |  1.151  |  DISEASES
427  |  ASAH1  |  1.357  |  DISEASES
551  |  AVP  |  3.244  |  DISEASES
2583  |  B4GALNT1  |  2.005  |  DISEASES
54880  |  BCOR  |  1.266  |  DISEASES
857  |  CAV1  |  1.004  |  DISEASES
6364  |  CCL20  |  1.396  |  DISEASES
9332  |  CD163  |  4.441  |  DISEASES
910  |  CD1B  |  3.271  |  DISEASES
911  |  CD1C  |  3.503  |  DISEASES
914  |  CD2  |  2.765  |  DISEASES
50489  |  CD207  |  6.233  |  DISEASES
959  |  CD40LG  |  2.483  |  DISEASES
921  |  CD5  |  2.046  |  DISEASES
965  |  CD58  |  1.67  |  DISEASES
9308  |  CD83  |  2.368  |  DISEASES
942  |  CD86  |  1.414  |  DISEASES
1118  |  CHIT1  |  1.526  |  DISEASES
1378  |  CR1  |  2.088  |  DISEASES
1380  |  CR2  |  2.263  |  DISEASES
7812  |  CSDE1  |  1.763  |  DISEASES
1435  |  CSF1  |  2.488  |  DISEASES
5476  |  CTSA  |  2.145  |  DISEASES
1508  |  CTSB  |  1.425  |  DISEASES
1510  |  CTSE  |  1.685  |  DISEASES
1520  |  CTSS  |  1.514  |  DISEASES
10522  |  DEAF1  |  2.298  |  DISEASES
100288687  |  DUX4  |  1.442  |  DISEASES
653545  |  DUX4L5  |  1.442  |  DISEASES
355  |  FAS  |  1.463  |  DISEASES
89885  |  FATE1  |  1.828  |  DISEASES
2214  |  FCGR3A  |  1.82  |  DISEASES
2268  |  FGR  |  1.332  |  DISEASES
50943  |  FOXP3  |  1.292  |  DISEASES
6624  |  FSCN1  |  3.617  |  DISEASES
2526  |  FUT4  |  2.787  |  DISEASES
53827  |  FXYD5  |  1.786  |  DISEASES
9514  |  GAL3ST1  |  1.785  |  DISEASES
2665  |  GDI2  |  1.374  |  DISEASES
27069  |  GHITM  |  1.356  |  DISEASES
2760  |  GM2A  |  1.968  |  DISEASES
2934  |  GSN  |  1.142  |  DISEASES
51454  |  GULP1  |  1.717  |  DISEASES
26762  |  HAVCR1  |  3.277  |  DISEASES
3039  |  HBA1  |  2.425  |  DISEASES
338376  |  IFNE  |  1.277  |  DISEASES
3321  |  IGSF3  |  1.264  |  DISEASES
3586  |  IL10  |  1.512  |  DISEASES
3605  |  IL17A  |  1.995  |  DISEASES
3559  |  IL2RA  |  1.542  |  DISEASES
3563  |  IL3RA  |  1.923  |  DISEASES
56623  |  INPP5E  |  1.628  |  DISEASES
3681  |  ITGAD  |  1.349  |  DISEASES
3683  |  ITGAL  |  1.673  |  DISEASES
3684  |  ITGAM  |  2.428  |  DISEASES
284359  |  IZUMO1  |  1.089  |  DISEASES
57670  |  KIAA1549  |  1.887  |  DISEASES
3805  |  KIR2DL4  |  1.341  |  DISEASES
3916  |  LAMP1  |  1.528  |  DISEASES
348120  |  LINC01193  |  1.458  |  DISEASES
3988  |  LIPA  |  1.706  |  DISEASES
4018  |  LPA  |  1.277  |  DISEASES
5609  |  MAP2K7  |  2.95  |  DISEASES
79104  |  MEG8  |  1.056  |  DISEASES
10227  |  MFSD10  |  1.719  |  DISEASES
4311  |  MME  |  1.13  |  DISEASES
4555  |  MT-TD  |  1.888  |  DISEASES
727897  |  MUC5B  |  1.247  |  DISEASES
4602  |  MYB  |  1.23  |  DISEASES
4763  |  NF1  |  2.419  |  DISEASES
256933  |  NPB  |  3.6  |  DISEASES
10577  |  NPC2  |  6.552  |  DISEASES
4893  |  NRAS  |  2.145  |  DISEASES
93034  |  NT5C1B  |  1.106  |  DISEASES
4942  |  OAT  |  2.911  |  DISEASES
5155  |  PDGFB  |  1.534  |  DISEASES
5229  |  PGGT1B  |  1.172  |  DISEASES
5236  |  PGM1  |  3.725  |  DISEASES
5309  |  PITX3  |  3.691  |  DISEASES
5321  |  PLA2G4A  |  1.223  |  DISEASES
9842  |  PLEKHM1  |  1.642  |  DISEASES
5538  |  PPT1  |  1.082  |  DISEASES
5660  |  PSAP  |  1.536  |  DISEASES
5781  |  PTPN11  |  1.894  |  DISEASES
5788  |  PTPRC  |  3.409  |  DISEASES
9367  |  RAB9A  |  2.695  |  DISEASES
6280  |  S100A9  |  4.652  |  DISEASES
404552  |  SCGB1D4  |  1.343  |  DISEASES
57556  |  SEMA6A  |  1.001  |  DISEASES
57515  |  SERINC1  |  1.691  |  DISEASES
5265  |  SERPINA1  |  3.965  |  DISEASES
12  |  SERPINA3  |  4.705  |  DISEASES
4068  |  SH2D1A  |  1.913  |  DISEASES
26503  |  SLC17A5  |  1.062  |  DISEASES
55315  |  SLC29A3  |  4.163  |  DISEASES
6609  |  SMPD1  |  6.576  |  DISEASES
10924  |  SMPDL3A  |  2.359  |  DISEASES
23583  |  SMUG1  |  3.432  |  DISEASES
6693  |  SPN  |  3.067  |  DISEASES
6696  |  SPP1  |  1.208  |  DISEASES
6721  |  SREBF2  |  1.419  |  DISEASES
8676  |  STX11  |  2.368  |  DISEASES
6832  |  SUPV3L1  |  1.466  |  DISEASES
441864  |  TARM1  |  2.13  |  DISEASES
7037  |  TFRC  |  1.774  |  DISEASES
7072  |  TIA1  |  1.838  |  DISEASES
84000  |  TMPRSS13  |  1.142  |  DISEASES
7124  |  TNF  |  2.512  |  DISEASES
10210  |  TOPORS  |  1.206  |  DISEASES
7357  |  UGCG  |  2.929  |  DISEASES
Locus(Waiting for update.)
Disease ID 1465
Disease histiocytosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:47)
HP:0002716  |  Lymph node hyperplasia  |  103
HP:0002665  |  Lymphoma  |  5
HP:0000873  |  Diabetes insipidus  |  4
HP:0001370  |  Rheumatoid arthritis  |  3
HP:0002664  |  Neoplasia  |  3
HP:0002890  |  Thyroid carcinoma  |  2
HP:0002895  |  Papillary thyroid carcinoma  |  2
HP:0002092  |  Pulmonary artery hypertension  |  2
HP:0002090  |  Pneumonia  |  2
HP:0012325  |  Chronic myelomonocytic leukemia  |  2
HP:0000863  |  Neurohypophyseal diabetes insipidus  |  2
HP:0005584  |  Renal cell carcinoma  |  1
HP:0000822  |  Hypertension  |  1
HP:0002318  |  Cervical myelopathy  |  1
HP:0100242  |  Sarcoma  |  1
HP:0040189  |  Desquamation  |  1
HP:0001397  |  Hepatic steatosis  |  1
HP:0012393  |  Allergy  |  1
HP:0002633  |  Vasculitis  |  1
HP:0002107  |  Collapsed lung  |  1
HP:0030731  |  Carcinoma  |  1
HP:0100825  |  Inflammation of the lips  |  1
HP:0000078  |  Genital abnormalities  |  1
HP:0002835  |  Aspiration  |  1
HP:0002758  |  Osteoarthritis  |  1
HP:0012191  |  B-cell lymphoma  |  1
HP:0002754  |  Bone infection  |  1
HP:0000969  |  Dropsy  |  1
HP:0001410  |  Decreased liver function  |  1
HP:0012156  |  Hemophagocytosis  |  1
HP:0001789  |  Hydrops fetalis  |  1
HP:0100702  |  Arachnoid cyst  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0002576  |  Intussusception  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0001994  |  'de toni-fanconi-debre' syndrome  |  1
HP:0012490  |  Inflammation of fat tissue  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0011857  |  Plasmacytoma  |  1
HP:0001396  |  Cholestasis  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0002593  |  Intestinal lymphangiectasia  |  1
HP:0011034  |  Amyloid disease  |  1
Disease ID 1465
Disease histiocytosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C2363896  |  hypothalamic diabetes insipidus
C2186532  |  liver disease
C0376293  |  stigmata
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0023895  |  liver disease  |  1
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:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1465
Disease histiocytosis
Case(Waiting for update.)