LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNEHEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 13 |
OrphanetNr: | |
OMIM Id: |
247800
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000099) | Glomerulonephritis | 13 / 7739 | ||||
|
(HPO:0001890) | Autoimmune hemolytic anemia | 17 / 7739 | ||||
|
(HPO:0001888) | Lymphopenia | 43 / 7739 | ||||
|
(HPO:0010702) | Increased antibody level in blood | 29 / 7739 | ||||
|
(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
|
(MedDRA:10035485) | Plasmacytosis | 1 / 7739 | ||||
|
(HPO:0030150) | Plasmacytosis | 3 / 7739 | ||||
|
(OMIM) | Antibody deficiency | 1 / 7739 | ||||
|
(OMIM) | Pneumocystis carinii pneumonia | 1 / 7739 | ||||
|
(OMIM) | Marked lymphoid hypoplasia | 1 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(OMIM) | Absent thymic Hassall corpuscles | 1 / 7739 | ||||
|
(OMIM) | Absent thymic lymphoid elements | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|