eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial hemophagocytic lymphohistiocytosis | ||||
| Disease ID | 1396 |
|---|---|
| Disease | familial hemophagocytic lymphohistiocytosis |
| Definition | A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly. |
| Synonym | erythrophagocytic lymphohistiocytoses, familial erythrophagocytic lymphohistiocytosis, familial familial erythrophagocytic lymphohistiocytoses familial erythrophagocytic lymphohistiocytosis familial erythrophagocytic lymphohistiocytosis (disorder) familial haemophagocytic histiocytosis familial haemophagocytic lymphohistiocytosis familial haemophagocytic reticulosis familial hemophagocytic histiocytoses familial hemophagocytic histiocytosis familial hemophagocytic lymphocytoses familial hemophagocytic lymphocytosis familial hemophagocytic lymphohistiocytoses familial hemophagocytic lymphohistiocytosis (disorder) familial hemophagocytic reticuloses familial hemophagocytic reticulosis familial histiocytic reticuloses familial histiocytic reticulosis fel fel - familial erythrophagocytic lymphohistiocytosis fhl fhl - familial haemophagocytic lymphohistiocytosis fhl - familial hemophagocytic lymphohistiocytosis fhl1 fhlh hemophagocytic histiocytoses, familial hemophagocytic histiocytosis, familial hemophagocytic hymphohistiocytoses, primary hemophagocytic hymphohistiocytosis, primary hemophagocytic lymphocytoses, familial hemophagocytic lymphocytosis, familial hemophagocytic lymphohistiocytoses, familial hemophagocytic lymphohistiocytoses, primary hemophagocytic lymphohistiocytosis familial -1 hemophagocytic lymphohistiocytosis familial 1 hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial, 1 hemophagocytic lymphohistiocytosis, primary hemophagocytic reticuloses, familial hemophagocytic reticulosis, familial histiocytic reticuloses, familial histiocytic reticulosis, familial histiocytoses, familial hemophagocytic histiocytosis, familial hemophagocytic hlh1 hplh hplh1 hymphohistiocytoses, primary hemophagocytic hymphohistiocytosis, primary hemophagocytic lymphocytoses, familial hemophagocytic lymphocytosis, familial hemophagocytic lymphohistiocytoses, familial erythrophagocytic lymphohistiocytoses, familial hemophagocytic lymphohistiocytoses, primary hemophagocytic lymphohistiocytosis, familial erythrophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, primary hemophagocytic primary hemophagocytic hymphohistiocytoses primary hemophagocytic hymphohistiocytosis primary hemophagocytic lymphohistiocytoses primary hemophagocytic lymphohistiocytosis reticuloses, familial hemophagocytic reticuloses, familial histiocytic reticulosis, familial hemophagocytic reticulosis, familial histiocytic |
| Orphanet | |
| OMIM | |
| UMLS | C0272199 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0242379 | lung cancer | 3 C0006142 | breast cancer | 2 C0026848 | myopathy | 2 C0018801 | heart failure | 1 C0020305 | hydrops fetalis | 1 C0024205 | lymphadenitis | 1 C0455988 | nonimmune hydrops fetalis | 1 C0024623 | gastric cancer | 1 C0026850 | muscular dystrophies | 1 C0026848 | myopathies | 1 C0026848 | muscle disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1396 |
|---|---|
| Disease | familial hemophagocytic lymphohistiocytosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0003198 | Myopathic changes | 3 HP:0003002 | Breast carcinoma | 2 HP:0001635 | Congestive heart failure | 1 HP:0001714 | Ventricular hypertrophy | 1 HP:0001712 | Left ventricular hypertrophy | 1 HP:0003712 | Hypertrophic muscles | 1 HP:0001789 | Hydrops fetalis | 1 HP:0005202 | Helicobacter pylori infection | 1 HP:0000969 | Dropsy | 1 HP:0002840 | Lymphadenitis | 1 HP:0100526 | Neoplasm of the lung | 1 HP:0002958 | Immune dysregulation | 1 HP:0012126 | Gastric cancer | 1 HP:0001790 | Nonimmune hydrops fetalis | 1 |
| Disease ID | 1396 |
|---|---|
| Disease | familial hemophagocytic lymphohistiocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1396 |
|---|---|
| Disease | familial hemophagocytic lymphohistiocytosis |
| Case | (Waiting for update.) |