Mu-heavy chain disease
Synonyms: mu-HCD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Adult
- Status
- active
A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mu-heavy chain disease | mu-HCD |
| fr | Maladie des chaînes lourdes mu | = en |
| de | My-Schwerkettenkrankheit | Mu-HCD |
| es | Enfermedad de cadenas pesadas mu | |
| it | Malattia delle catene pesanti mu | = en |
| nl | Mu-zwareketenziekte | = en |
| pt | Doença da cadeia pesada Mu | |
| pl | Choroba łańcuchów ciężkich Mu | = en |
| cs | Nemoc z těžkých řetězců Mu | = en |
| uk | Хвороба важких ланцюгів Мю | = en |
| zh | μ重链病 | = en |
| tr | Mu-ağır zincir hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C88.2 | NTBT | inclusion | validated |
| ICD-11 | 2A84.2 | E | specific | validated |
| ICD-11 | XH2JK2 | E | specific | validated |
| MONDO | 0015044 | E | validated | |
| UMLS | C0242310 | 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:86864Heavy chain disease
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010975 | Abnormal B cell count | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0030156 | Bence Jones Proteinuria | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000112 | Nephropathy | |
| HP:0002797 | Osteolysis | |
| HP:0000939 | Osteoporosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 15203869[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100024
- This record as JSON: /data/d/100024.json