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: Sort by abundance 

1
(HPO:0000099) Glomerulonephritis 13 / 7739
2
(HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
3
(HPO:0001888) Lymphopenia 43 / 7739
4
(HPO:0010702) Increased antibody level in blood 29 / 7739
5
(HPO:0002090) Pneumonia 59 / 7739
6
(MedDRA:10035485) Plasmacytosis 1 / 7739
7
(HPO:0030150) Plasmacytosis 3 / 7739
8
(OMIM) Antibody deficiency 1 / 7739
9
(OMIM) Pneumocystis carinii pneumonia 1 / 7739
10
(OMIM) Marked lymphoid hypoplasia 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Absent thymic Hassall corpuscles 1 / 7739
13
(OMIM) Absent thymic lymphoid elements 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: