eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| heavy chain disease | ||||
| Disease ID | 1224 |
|---|---|
| Disease | heavy chain disease |
| Definition | A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes. |
| Synonym | ballard disease hcd heavy chain dis heavy chain disease (disorder) heavy chain disease (morphologic abnormality) heavy chain disease [disease/finding] heavy chain disease, nos heavy chain diseases seligmann disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0018852 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 2 | A2M | 1.126 | DISEASES 60 | ACTB | 1.737 | DISEASES 9179 | AP4M1 | 1.61 | DISEASES 959 | CD40LG | 3.571 | DISEASES 966 | CD59 | 1.029 | DISEASES 8648 | NCOA1 | 2.267 | DISEASES 56288 | PARD3 | 3.617 | DISEASES 5079 | PAX5 | 2.209 | DISEASES 12 | SERPINA3 | 1.064 | DISEASES 6520 | SLC3A2 | 4.866 | DISEASES 6668 | SP2 | 2.569 | DISEASES 127933 | UHMK1 | 2.411 | DISEASES 7441 | VPREB1 | 2.183 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1224 |
|---|---|
| Disease | heavy chain disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1224 |
|---|---|
| Disease | heavy chain 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: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 | 1224 |
|---|---|
| Disease | heavy chain disease |
| Case | (Waiting for update.) |