IMMUNE DEFICIENCY DISEASE
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
10
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
242850
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0004787)
|
Fulminant hepatitis |
|
|
|
|
3 / 7739
|
|
2
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
|
|
20 / 7739
|
|
5
|
(HPO:0005363)
|
Partial humoral immunodeficiency |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0005375)
|
Partial cellular immunodeficiency |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Intrahepatic sclerosing cholangitis |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(OMIM)
|
Severe IgM deficiency |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Primary immunization antibody response defective |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |