ORPHA:100026
Gamma-heavy chain disease
Synonyms: Franklin disease · Gamma-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 gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gamma-heavy chain disease | Franklin disease · Gamma-HCD |
| fr | Maladie des chaînes lourdes gamma | Gamma-HCD · Maladie de Franklin |
| de | Gamma-Schwerkettenkrankheit | Franklin-Krankheit · Gamma-HCD |
| es | Enfermedad de cadenas pesadas gamma | |
| it | Malattia delle catene pesanti gamma | Gamma-HCD · Malattia di Franklin |
| nl | Gamma-zwareketenziekte | Gamma-HCD · Ziekte van Franklin |
| pt | Doença da cadeia pesada gama | |
| pl | Choroba łańcuchów ciężkich gamma | Choroba Franklina · Gamma-HCD |
| cs | Nemoc z těžkých řetězců gama | Franklinova nemoc · Gama HCD |
| uk | Хвороба важких ланцюгів Гамма | Хвороба Франкліна · Гамма-HCD |
| zh | γ重莲病 | Franklin病 |
| tr | Gama ağır zincir hastalığı | Gama-HCD · Franklin hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C88.2 | NTBT | inclusion | validated |
| ICD-11 | 2A84.1 | E | specific | validated |
| MONDO | 0015046 | E | validated | |
| UMLS | C0018854 | E | validated | |
| GARD | 10346 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 120 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.
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HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004332 | Abnormal lymphocyte morphology | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100648 | Neoplasm of the tongue | |
| HP:0000988 | Skin rash | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002960 | Autoimmunity | |
| HP:0002015 | Dysphagia | |
| HP:0002797 | Osteolysis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100026
- This record as JSON: /data/d/100026.json