eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alpha-heavy chain disease | ||||
| Disease ID | 841 |
|---|---|
| Disease | alpha-heavy chain disease |
| Definition | A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA. |
| Synonym | [m] alpha heavy chain disease [m] alpha heavy chain disease (morphologic abnormality) [m] immunoproliferative small intestinal disease [m] immunoproliferative small intestinal disease (morphologic abnormality) alpha chain dis alpha chain disease alpha hcd alpha heavy chain disease alpha heavy chain disease (clinical) alpha heavy chain disease (disorder) alpha heavy chain disease -retired- alpha heavy chain disease [dup] (disorder) alpha heavy chain disease, enteric form alpha heavy chain disease, enteric form (disorder) alpha heavy chain disease, nos alpha-chain disease alpha-chain diseases chain alpha disease disease, alpha-chain diseases, alpha-chain heavy chain dis iga type heavy chain disease, iga type iga heavy chain disease iga heavy chain disease, nos immunoproliferative small intestinal dis immunoproliferative small intestinal disease immunoproliferative small intestinal disease (clinical) immunoproliferative small intestinal disease (disorder) immunoproliferative small intestinal disease (morphologic abnormality) immunoproliferative small intestinal disease [disease/finding] immunoproliferative small intestine disease ipsid lymphoma, mediterranean mediterranean abdominal lymphoma mediterranean lymphoma mediterranean lymphoma (clinical) mediterraneanl lymphoma |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0021071 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:2) |
| Locus | (Waiting for update.) |
| Disease ID | 841 |
|---|---|
| Disease | alpha-heavy chain disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0002716 | Lymphadenopathy HP:0001744 | Splenomegaly HP:0001596 | Alopecia HP:0002665 | Lymphoma HP:0002721 | Immunodeficiency HP:0002901 | Hypocalcemia HP:0002027 | Abdominal pain HP:0100805 | Precocious menopause HP:0001945 | Fever HP:0002244 | Abnormality of the small intestine HP:0002240 | Hepatomegaly HP:0001541 | Ascites HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0001510 | Growth delay HP:0002961 | Dysgammaglobulinemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 841 |
|---|---|
| Disease | alpha-heavy chain disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0311276 | severe malnutrition |
| 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002244 | Abnormality of the small intestine | MP:0002989 | small kidney | reduced physical bulk one or both of the organs responsible for urine secretion |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002244 | Abnormality of the small intestine | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002961 | Dysgammaglobulinemia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002901 | Hypocalcemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | 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 |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 841 |
|---|---|
| Disease | alpha-heavy chain disease |
| Case | (Waiting for update.) |