PedAM
Pediatric Disease Annotations & Medicines
| hyper ige syndrome | ||||
| Disease ID | 988 |
|---|---|
| Disease | hyper ige syndrome |
| Definition | Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share. |
| Synonym | buckley syndrome buckley syndromes buckley's syndrome dermatitis, atopic, with impaired neutrophil chemotaxis hie syndrome hie syndromes hyper-ige syndrome hyper-ige syndromes hyperimmunoglobulin e recurrent infection syndrome hyperimmunoglobulin e syndrome hyperimmunoglobulin e syndrome (disorder) hyperimmunoglobulin e, recurrent infection syndrome hyperimmunoglobulin e-recurrent infection syndrome hyperimmunoglobulinemia e syndrome hyperimmunoglobulinemia e syndromes job buckley syndrome job syndrome [disease/finding] job syndromes job's syndrome (disorder) job-buckley syndrome job-buckley syndromes jobs syndrome quie-hill syndrome recurring cold staphylococcal abscesses syndrome job syndrome, buckley syndrome, hie syndrome, hyper-ige syndrome, hyperimmunoglobulinemia e syndrome, job syndrome, job's syndrome, job-buckley syndromes, buckley syndromes, hie syndromes, hyperimmunoglobulinemia e syndromes, job syndromes, job-buckley |
| Orphanet | |
| DOID | |
| UMLS | C3887645 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0011603 | dermatitis | 2 C0024299 | lymphoma | 2 C0011615 | atopic dermatitis | 2 C0006840 | candidiasis | 2 C0007766 | intracranial aneurysms | 1 C0019348 | herpes simplex | 1 C0007766 | cranial aneurysm | 1 C0042769 | viral infection | 1 C0007766 | intracranial aneurysm | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0014118 | endocarditis | 1 C0033860 | psoriasis | 1 C0042769 | viral infections | 1 C0041296 | mycobacterium tuberculosis infection | 1 C0041296 | tuberculosis | 1 C0079731 | b cell lymphoma | 1 C0004623 | bacterial infection | 1 C0079731 | b-cell lymphoma | 1 C0026393 | molluscum contagiosum | 1 C0004030 | aspergillosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 988 |
|---|---|
| Disease | hyper ige syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0001047 | Atopic dermatitis | 2 HP:0002665 | Lymphoma | 2 HP:0012191 | B-cell lymphoma | 2 HP:0001581 | Recurrent skin infections | 1 HP:0005364 | Severe viral infections | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0001880 | Eosinophilia | 1 HP:0100584 | Endocarditis | 1 HP:0030049 | Brain abscess | 1 HP:0002721 | Immunodeficiency | 1 HP:0005387 | Combined immunodeficiency | 1 HP:0011947 | Respiratory infection | 1 HP:0003765 | Psoriasis | 1 HP:0004944 | Cerebral artery aneurysm | 1 |
| Disease ID | 988 |
|---|---|
| Disease | hyper ige syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0024299 | lymphoma | 2 C2607948 | tuberculous brain abscess | 1 C0004623 | bacterial infection | 1 C0021311 | infections | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0021051 | immunodeficiency | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (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.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |