Heavy chain deposition disease
Synonyms: HCDD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heavy chain deposition disease | HCDD |
| fr | Maladie de dépôt des chaînes lourdes | = en |
| de | Schwerketten-Speicherkrankheit | = en |
| es | Enfermedad por depósito de cadenas pesadas | |
| it | Malattia da depositi di catene pesanti | = en |
| nl | Zwareketendepositieziekte | = en |
| pt | Doença de deposição de cadeias pesadas | |
| pl | Choroba deponowania łańcuchów ciężkich | = en |
| cs | Nemoc z depozice těžkých řetězců | = en |
| uk | Хвороба відкладення важких ланцюгів | = en |
| zh | 重链沉积病 | = en |
| tr | Ağır zincir birikimi hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 2A83.50 | E | specific | validated |
| MONDO | 0019728 | E | validated | |
| UMLS | C1333947 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:86861Non-amyloid monoclonal immunoglobulin deposition disease
rare renal diseases; rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93556
- This record as JSON: /data/d/93556.json