Alpha-heavy chain disease
disease diseaseOn this page
Also known as alpha chain diseaseAlpha heavy chain diseaseAlpha-HCDImmunoproliferative small intestinal diseaseIPSIDMediterranean abdominal lymphomaMediterranean lymphomaMediterraneanl lymphomaSeligmann's disease
Summary
Alpha-heavy chain disease (MONDO:0015045) is a disease. A subtype of heavy chain disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 15
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 400 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002024 | Malabsorption | Very frequent (80-99%) |
| HP:0002244 | Abnormality of the small intestine | Very frequent (80-99%) |
| HP:0002961 | Dysgammaglobulinemia | Very frequent (80-99%) |
| HP:0001903 | Anemia | Frequent (30-79%) |
| HP:0002027 | Abdominal pain | Frequent (30-79%) |
| HP:0002721 | Immunodeficiency | Frequent (30-79%) |
| HP:0002901 | Hypocalcemia | Frequent (30-79%) |
| HP:0001510 | Growth delay | Occasional (5-29%) |
| HP:0001541 | Ascites | Occasional (5-29%) |
| HP:0001596 | Alopecia | Occasional (5-29%) |
| HP:0001744 | Splenomegaly | Occasional (5-29%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0002240 | Hepatomegaly | Occasional (5-29%) |
| HP:0002665 | Lymphoma | Occasional (5-29%) |
| HP:0002716 | Lymphadenopathy | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | alpha-heavy chain disease |
| Mondo ID | MONDO:0015045 |
| MeSH | D007161 |
| Orphanet | 100025 |
| DOID | DOID:0060126 |
| ICD-11 | 680227490 |
| NCIT | C3132 |
| UMLS | C0021071 |
| MedGen | 7039 |
| GARD | 0019742 |
| Is cancer (heuristic) | no |
Also known as: alpha chain disease · Alpha heavy chain disease · Alpha-HCD · Immunoproliferative small intestinal disease · IPSID · Mediterranean abdominal lymphoma · Mediterranean lymphoma · Mediterraneanl lymphoma · Seligmann’s disease
Disease family
Classification path: disease › human disease › disease by body system or component › immune system disorder › leukocyte disorder › B-cell neoplasm › neoplasm of mature B-cells › plasma cell neoplasm › heavy chain disease › alpha-heavy chain disease
Related subtypes (4): delta-heavy chain disease, mu-heavy chain disease, gamma-heavy chain disease, epsilon-heavy chain disease
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.