Alpha heavy-chain disease

General Information (adopted from Orphanet):

Synonyms, Signs: Alpha-HCD
Number of Symptoms 15
OrphanetNr: 100025
OMIM Id:
ICD-10: C88.3
UMLs:
MeSH:
MedDRA:
Snomed: 109982002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Heavy chain disease
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
2
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
3
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
4
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
5
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
6
 (HPO:0002250) Abnormality of the large intestine Very frequent [Orphanet] 32 / 7739
7
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
8
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
9
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
10
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
11
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
12
 (HPO:0002901) Hypocalcemia Frequent [Orphanet] 56 / 7739
13
 (HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
14
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
15
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: