Alpha-heavy chain disease
Synonyms: Immunoproliferative small intestinal disease · Mediterranean lymphoma · Alpha-HCD · IPSID
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Adolescent, Adult
- Status
- active
A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-heavy chain disease | Immunoproliferative small intestinal disease · Mediterranean lymphoma · Alpha-HCD · IPSID |
| fr | Maladie des chaînes lourdes alpha | Alpha-HCD · IPSID · Lymphome méditerranéen · Maladie immunoproliférative de l'intestin grêle |
| de | Alpha-Schwerkettenkrankheit | Alpha-HCD · IPSID · Immunoproliferative Erkrankung des Dünndarms · Mediterranes Lymphom |
| es | Enfermedad de cadenas pesadas alfa | Alfa-HCD · Enfermedad inmunoproliferativa del intestino delgado · IPSID · Linfoma mediterráneo |
| it | Malattia delle catene pesanti alfa | Alfa-HCD · IPSID · Linfoma mediterraneo · Malattia immunoproliferativa dell'intestino tenue |
| nl | Alfa-zwareketenziekte | Alfa-HCD · IPSID · Immunoproliferatieve ziekte van dunne darm · Mediterraan lymfoom |
| pt | Doença da cadeia pesada alfa | |
| pl | Choroba łańcuchów ciężkich alfa | Alfa-HCD · Chłoniak śródziemnomorski · Immunoproliferacyjna choroba jelita cienkiego · IPSID |
| cs | Nemoc z těžkých řetězců alfa | Alfa HCD · IPSID · Imunoproliferativní nemoc tenkého střeva · Středomořský lymfom |
| uk | Хвороба важких ланцюгів Альфа | Альфа-HCD · Імунопроліферативні захворювання тонкої кишки · IPSID · Середземноморська лімфома |
| zh | α重链病 | 免疫增殖性小肠疾病 |
| tr | Alfa-ağır zincir hastalığı | IPSID · Alpha-HCD · Akdeniz lenfoması · İmmünoproliferatif ince bağırsak hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C88.3 | NTBT | inclusion | validated |
| ICD-11 | 2A84.0 | E | specific | validated |
| ICD-11 | XH1Y65 | E | specific | validated |
| MONDO | 0015045 | E | validated | |
| MeSH | D007161 | E | validated | |
| UMLS | C0021071 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:103915OBSOLETE: Immunoproliferative small intestinal disease referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 400 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002244 | Abnormality of the small intestine | |
| HP:0002961 | Dysgammaglobulinemia | |
| HP:0002024 | Malabsorption | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001903 | Anemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0002721 | Immunodeficiency | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001541 | Ascites | |
| HP:0001945 | Fever | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002665 | Lymphoma | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100025
- This record as JSON: /data/d/100025.json