alpha-heavy chain disease
Findings
No curated finding names alpha-heavy chain disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-heavy chain disease (alpha-HCD) is 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.
Definition from the Mondo Disease Ontology (MONDO:0015045), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating immunoglobulin concentrationHPOHP:0010701
- Very frequent (80% to 99% of cases)
- Abnormal small intestine morphologyHPOHP:0002244
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- HypocalcemiaHPOHP:0002901
- Frequent (30% to 79% of cases)
- ImmunodeficiencyHPOHP:0002721
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
Show the remaining 3
- LymphadenopathyHPOHP:0002716
- Occasional (5% to 29% of cases)
- LymphomaHPOHP:0002665
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
8 names
Resolves to: alpha-heavy chain disease
- Also called
- alpha chain diseaseAlpha heavy chain diseaseAlpha-HCDImmunoproliferative small intestinal diseaseIPSIDMediterranean abdominal lymphomaMediterranean lymphomaMediterraneanl lymphoma