IMMUNODEFICIENCY 16

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615593
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly 337 / 7739
2
 (HPO:0100726) Kaposi's sarcoma 3/3 [HPO:probinson] 3 / 7739
3
 (HPO:0001876) Pancytopenia 89 / 7739
4
 (HPO:0004844) Coombs-positive hemolytic anemia 5 / 7739
5
 (HPO:0002721) Immunodeficiency 97 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: