DiseaseID 4154

重链病

disease

NCI2016_02D:A clonal disorder characterized by the secretion of a truncated gamma chain. In most cases, it is associated with morphologic changes also seen in lymphoplasmacytic lymphomas, but the clinical course is typic

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Disease: 1Symptom: 7Target: 12Links: 19
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Record Fields

Scalar fields from the final disease record.

Disease Id
4154
Core Entity Id
60460
Source Entity Count
1
Preferred Name
Heavy Chain Disease
Name Cn
重链病
Name Pinyin
Zhong Lian Bing
Name En
Heavy Chain Disease
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Digestive System Diseases; Immune System Diseases; Neoplasms; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Do Class
disease of anatomical entity
Hpo Class
Mesh Class Name
Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Hpo Class Name
Do Class Name
disease of anatomical entity
Disease Definition
NCI2016_02D:A clonal disorder characterized by the secretion of a truncated gamma chain. In most cases, it is associated with morphologic changes also seen in lymphoplasmacytic lymphomas, but the clinical course is typically more aggressive than in lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia. --2004
Version
v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Heavy Chain Disease
Role
preferred
Name
Gamma-Chain Disease
Role
preferred
Name
Immunoproliferative Small Intestinal Disease
Role
preferred
Name
Alpha Heavy Chain Disease
Role
alias
Name
Gamma Heavy Chain Disease
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS001278HBDIS001279HBDIS001522
Me Sh
D006362D007161
Umls
C0018852C0018854C0021071
Icd10
C88.1C88.2C88.3
Sym Map
SMDE08907SMDE09267SMDE09798
Do Class
DOID:7
Dis Ge Net
C0018852C0018854C0021071
Umls Sty
T047T191
Me Sh Class
C04C06C15C20
Tcmbank Disease
180652589530307

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
diseasegroup
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or SyndromeNeoplastic Process
Disease Definition
NCI2016_02D:A clonal disorder characterized by the secretion of a truncated gamma chain. In most cases, it is associated with morphologic changes also seen in lymphoplasmacytic lymphomas, but the clinical course is typically more aggressive than in lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia. --2004NCI2016_02D:A clonal disorder, also known as immunoproliferative small intestinal disease or Mediterranean lymphoma, characterised by the secretion of a defective alpha heavy chain. It predominantly affects young people in the Mediterranean region. It involves the small intestine, and patients usually present with malabsorption syndrome, abdominal pain, weight loss, and fever. There is extensive villous atrophy of the small intestinal mucosa, which is heavily infiltrated by small lymphocytes and plasma cells. The small intestinal morphologic changes are consistent with a mucosa-associated lymphoid tissue lymphoma (MALT lymphoma).|MSH2017_2016_08_12: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.NCI2016_02D:A group of rare disorders of immunoglobulin synthesis associated with B-cell proliferative disorders.|MSH2017_2016_08_12: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.|CSP2006:disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine; 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.
Me Sh Disease Class
Digestive System Diseases; Immune System Diseases; Neoplasms; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or SyndromeNeoplastic Process