Gamma heavy-chain disease

General Information (adopted from Orphanet):

Synonyms, Signs: Gamma-HCD
Franklin disease
Number of Symptoms 20
OrphanetNr: 100026
OMIM Id:
ICD-10: C88.2
UMLs:
MeSH:
MedDRA:
Snomed: 109984001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: 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:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
3
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
4
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
5
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
6
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
7
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
8
 (HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
9
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
10
 (HPO:0004332) Abnormality of lymphocytes Very frequent [Orphanet] 12 / 7739
11
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
12
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
13
 (HPO:0012145) Abnormality of multiple cell lineages in the bone marrow Very frequent [Orphanet] 11 / 7739
14
 (HPO:0001878) Hemolytic anemia Occasional [Orphanet] 83 / 7739
15
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
16
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
17
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
18
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
19
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
20
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: