eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sea-blue histiocyte disease | ||||
| Disease ID | 1442 |
|---|---|
| Disease | sea-blue histiocyte disease |
| Definition | A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining. |
| Synonym | 'sea blue' histiocytes disease, sea-blue histiocyte diseases, sea-blue histiocyte histiocyte disease, sea-blue histiocyte diseases, sea-blue histiocyte syndrome, sea blue histiocyte syndrome, sea-blue histiocyte syndromes, sea blue histiocyte syndromes, sea-blue histiocytoses, sea blue histiocytoses, sea-blue histiocytosis, sea blue histiocytosis, sea-blue sea blue histiocyte disease sea blue histiocyte syndrome sea blue histiocytoses sea blue histiocytosis sea-blue histiocyte sea-blue histiocyte diseases sea-blue histiocyte syndrome sea-blue histiocyte syndrome (disorder) sea-blue histiocyte syndrome [disease/finding] sea-blue histiocyte syndromes sea-blue histiocytoses sea-blue histiocytosis syndrome, sea-blue histiocyte syndromes, sea-blue histiocyte |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0036489 |
| MeSH | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | (Waiting for update.) |
| Disease ID | 1442 |
|---|---|
| Disease | sea-blue histiocyte disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001744 | Splenomegaly HP:0000478 | Abnormal eye HP:0002221 | Absent axillary hair HP:0001394 | Hepatic cirrhosis HP:0001873 | Low platelet count HP:0001982 | Sea-blue histiocytosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1442 |
|---|---|
| Disease | sea-blue histiocyte disease |
| Manually Symptom | (Waiting for update.) |
| 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 |
| rs515726148 | NA | 348 | APOE | umls:C0036489 | CLINVAR | NA | 0.36 | NA | APOE | 19 | 44908796 | TCC | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000478 | Abnormality of the eye | 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:0002221 | Absent axillary hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002221 | Absent axillary hair | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001982 | Sea-blue histiocytosis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1442 |
|---|---|
| Disease | sea-blue histiocyte disease |
| Case | (Waiting for update.) |